The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Genotypic differences observed among individuals in a population.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
The relationships of groups of organisms as reflected by their genetic makeup.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
A group of the D-related HLA antigens found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Any method used for determining the location of and relative distances between genes on a chromosome.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Transmembrane proteins that form the beta subunits of the HLA-DQ antigens.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Individuals whose ancestral origins are in the continent of Europe.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A subclass of HLA-D antigens that consist of alpha and beta chains. The inheritance of HLA-DR antigens differs from that of the HLA-DQ ANTIGENS and HLA-DP ANTIGENS.
Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement.
The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
Transmembrane proteins that form the alpha subunits of the HLA-DQ antigens.
A field of study concerned with the principles and processes governing the geographic distributions of genealogical lineages, especially those within and among closely related species. (Avise, J.C., Phylogeography: The History and Formation of Species. Harvard University Press, 2000)
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
An individual in which both alleles at a given locus are identical.
An HLA-DR antigen which is associated with HLA-DRB1 CHAINS encoded by DRB1*03 alleles.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Genetic loci in the vertebrate major histocompatibility complex that encode polymorphic products which control the immune response to specific antigens. The genes are found in the HLA-D region in humans and in the I region in mice.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Class I human histocompatibility (HLA) surface antigens encoded by more than 30 detectable alleles on locus B of the HLA complex, the most polymorphic of all the HLA specificities. Several of these antigens (e.g., HLA-B27, -B7, -B8) are strongly associated with predisposition to rheumatoid and other autoimmune disorders. Like other class I HLA determinants, they are involved in the cellular immune reactivity of cytolytic T lymphocytes.
Genealogy is the study of family history and descent, while heraldry refers to the practice of designing, displaying, and studying coats of arms, which often provide historical information about families or individuals.
An individual having different alleles at one or more loci regarding a specific character.
Deoxyribonucleic acid that makes up the genetic material of CHLOROPLASTS.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Cytochromes of the b group that have alpha-band absorption of 563-564 nm. They occur as subunits in MITOCHONDRIAL ELECTRON TRANSPORT COMPLEX III.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
An independent state, an archipelago in the western Persian Gulf, northwest of Qatar. It comprises low-lying islands of Bahrain (the largest), Muharraq, Sitra, and several islets. It has extensive oil fields. The name comes from the Arabic al-bahrayn, "the two seas", with reference to its lying in the middle of a bay with its "two seas" east and west of it. (From Webster's New Geographical Dictionary, 1988, p107 & Room, Brewer's Dictionary of Names, 1992, p45)
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A country spanning from central Asia to the Pacific Ocean.
Individuals whose ancestral origins are in the continent of Africa.
A specific HLA-B surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-B*08 allele family.
I'm afraid there seems to be a misunderstanding - "Africa" is not a medical term and does not have a medical definition. Africa is the world's second-largest and second-most populous continent, consisting of 54 countries with diverse cultures, peoples, languages, and landscapes. If you have any questions related to medical topics or definitions, I would be happy to help answer those for you!
Polymorphic class I human histocompatibility (HLA) surface antigens present on almost all nucleated cells. At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. They serve as targets for T-cell cytolytic responses and are involved with acceptance or rejection of tissue/organ grafts.
The total genetic information possessed by the reproductive members of a POPULATION of sexually reproducing organisms.
The collective name for the islands of the central Pacific Ocean, including the Austral Islands, Cook Islands, Easter Island, HAWAII; NEW ZEALAND; Phoenix Islands, PITCAIRN ISLAND; SAMOA; TONGA; Tuamotu Archipelago, Wake Island, and Wallis and Futuna Islands. Polynesians are of the Caucasoid race, but many are of mixed origin. Polynesia is from the Greek poly, many + nesos, island, with reference to the many islands in the group. (From Webster's New Geographical Dictionary, 1988, p966 & Room, Brewer's Dictionary of Names, 1992, p426)
I'm sorry for any confusion, but 'Europe' is a geographical continent and not a medical term; therefore, it doesn't have a medical definition.
Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.
Genetic loci in the vertebrate major histocompatibility complex which encode polymorphic characteristics not related to immune responsiveness or complement activity, e.g., B loci (chicken), DLA (dog), GPLA (guinea pig), H-2 (mouse), RT-1 (rat), HLA-A, -B, and -C class I genes of man.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.
The change in gene frequency in a population due to migration of gametes or individuals (ANIMAL MIGRATION) across population barriers. In contrast, in GENETIC DRIFT the cause of gene frequency changes are not a result of population or gamete movement.
A specific HLA-A surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-A*01 allele family.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.
Individual members of South American ethnic groups with historic ancestral origins in Asia.
Biochemical identification of mutational changes in a nucleotide sequence.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Genetic loci associated with a QUANTITATIVE TRAIT.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
Any of several large carnivorous mammals of the family CANIDAE that usually hunt in packs.
I'm sorry for any confusion, but there seems to be a misunderstanding as "South America" is not a medical term and cannot have a medical definition. It is a geographical term referring to the southern portion of the American continent, consisting of twelve independent countries and three territories of other nations.
The largest of the continents. It was known to the Romans more specifically as what we know today as Asia Minor. The name comes from at least two possible sources: from the Assyrian asu (to rise) or from the Sanskrit usa (dawn), both with reference to its being the land of the rising sun, i.e., eastern as opposed to Europe, to the west. (From Webster's New Geographical Dictionary, 1988, p82 & Room, Brewer's Dictionary of Names, 1992, p34)
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
Class I human histocompatibility (HLA) antigens encoded by a small cluster of structural genes at the C locus on chromosome 6. They have significantly lower immunogenicity than the HLA-A and -B determinants and are therefore of minor importance in donor/recipient crossmatching. Their primary role is their high-risk association with certain disease manifestations (e.g., spondylarthritis, psoriasis, multiple myeloma).
The major group of transplantation antigens in the mouse.
Deoxyribonucleic acid that makes up the genetic material of plants.
A family of receptors found on NK CELLS that have specificity for a variety of HLA ANTIGENS. KIR receptors contain up to three different extracellular immunoglobulin-like domains referred to as D0, D1, and D2 and play an important role in blocking NK cell activation against cells expressing the appropriate HLA antigens thus preventing cell lysis. Although they are often referred to as being inhibitory receptors, a subset of KIR receptors may also play an activating role in NK cells.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
A region, north-central Asia, largely in Russia. It extends from the Ural Mountains to the Pacific Ocean and from the Arctic Ocean to central Kazakhstan and the borders of China and Mongolia.
The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
A family composed of spouses and their children.
An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).
## I'm sorry for any confusion, but "Japan" is not a medical term or concept. It is a country located in Asia, known as Nihon-koku or Nippon-koku in Japanese, and is renowned for its unique culture, advanced technology, and rich history. If you have any questions related to medical topics, I would be happy to help answer them!
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
Identification of the major histocompatibility antigens of transplant DONORS and potential recipients, usually by serological tests. Donor and recipient pairs should be of identical ABO blood group, and in addition should be matched as closely as possible for HISTOCOMPATIBILITY ANTIGENS in order to minimize the likelihood of allograft rejection. (King, Dictionary of Genetics, 4th ed)
A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.

Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover. (1/12035)

OBJECTIVE: To examine the relationship between a common polymorphism within intron 1 of the COL1A1 gene and osteoporosis in a nested case-control study. METHODS: We studied 185 healthy women (mean +/- SD age 54.3+/-4.6 years). Bone mineral density (BMD) was measured using dual x-ray absorptiometry, and fractures were determined radiographically. The COL1A1 genotype was assessed using the polymerase chain reaction and Bal I endonuclease digestion. RESULTS: Genotype frequencies were similar to those previously observed and in Hardy-Weinberg equilibrium: SS 61.1%, Ss 36.2%, and ss 2.7%. Carriage of at least one copy of the "s" allele was associated with a significant reduction in lumbar spine BMD (P = 0.02) and an increased risk of total fracture (P = 0.04). Urinary pyridinoline levels were significantly elevated in those with the risk allele (P < 0.05). CONCLUSION: These data support the findings that the COL1A1 gene polymorphism is associated with low BMD and fracture risk, and suggest a possible physiologic effect on total body turnover of type I collagen.  (+info)

A novel method for determining linkage between DNA sequences: hybridization to paired probe arrays. (2/12035)

Cooperative hybridization has been used to establish physical linkage between two loci on a DNA strand. Linkage was detected by hybridization to a new type of high-density oligonucleotide array. Each synthesis location on the array contains a mixture of two different probe sequences. Each of the two probes can hybridize independently to a different target sequence, but if the two target sequences are physically linked there is a cooperative increase in hybridization yield. The ability to create and control non-linear effects raises a host of possibilities for applications of oligonucleotide array hybridization. The method has been used to assign linkage in 50:50 mixtures of DNA containing single nucleotide polymorphisms (SNPs) separated by 17, 693, 1350 and 2038 bp and to reconstruct haplotypes. Other potential uses include increasing the specificity of hybridization in mutation detection and gene expression monitoring applications, determining SNP haplotypes, characterizing repetitive sequences, such as short tandem repeats, and aiding contig assembly in sequen-cing by hybridization.  (+info)

The haplotype distribution of two genes of citrus tristeza virus is altered after host change or aphid transmission. (3/12035)

Genetic variability of citrus tristeza virus (CTV) was studied using the haplotypes detected by single-strand conformation polymorphism (SSCP) analysis of genes p18 and p20 in six virus populations of two origins. The Spanish group included a CTV isolate and subisolates obtained by graft-transmission to different host species. The other included two subisolates aphid-transmitted from a single Japanese isolate. The homozygosity observed for gene p20 was always significantly higher than that expected under neutral evolution, whereas only three populations showed high homozygosity for p18, suggesting stronger host constraints for p20 than for p18. Sequential transmissions of a Spanish isolate to new host species increased the difference between its population and that of the successive subisolates for gene p18, as estimated by the F statistic. Analysis of molecular variance indicated that variation between both groups of populations was not statistically significant, whereas variations between populations of the same group or within populations were significant for both genes studied. Our data indicate that selection affects the haplotype distribution and that adaptation to a new host can be as important or more as the geographical origin. Variation of the CTV populations after host change or aphid transmission may explain in part the wide biological variability observed among CTV isolates.  (+info)

DYT1 mutation in French families with idiopathic torsion dystonia. (4/12035)

A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We tested 24 families and six isolated cases with ITD and found 14 individuals from six French families who carried this mutation, indicating that 20% of the affected families carried the DYT1 mutation. Age at onset was always before 20 years (mean, 9+/-4 years). Interestingly, the site of onset was the upper limb in all but one patient. Dystonia was generalized in seven patients and remained focal or segmental in three patients. The absence of common haplotypes among DYT1 families suggests that at least six independent founder mutations have occurred. In addition, one Ashkenazi Jewish family carried the common haplotype described previously in Ashkenazi Jewish patients, but it was absent in the other family. Moreover, the dystonia remained focal in the latter family when compared with the usual generalized phenotype in patients with the common Ashkenazi Jewish haplotype. This indicates that there are at least two founder mutations in this population.  (+info)

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. (5/12035)

The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. The mutation (A-->T at nt943+3) disrupts the 3' splice site of exon 5 leading to the deletion of this exon from MSH2 mRNA and represents the only frequent MSH2 mutation so far reported. Although this mutation was initially detected in four of 33 colorectal cancer families analysed from eastern England, more extensive analysis has reduced the frequency to four of 52 (8%) English HNPCC kindreds analysed. In contrast, the MSH2 mutation was identified in 10 of 20 (50%) separately identified colorectal families from Newfoundland. To investigate the origin of this mutation in colorectal cancer families from England (n=4), Newfoundland (n=10), and the United States (n=3), haplotype analysis using microsatellite markers linked to MSH2 was performed. Within the English and US families there was little evidence for a recent common origin of the MSH2 splice site mutation in most families. In contrast, a common haplotype was identified at the two flanking markers (CA5 and D2S288) in eight of the Newfoundland families. These findings suggested a founder effect within Newfoundland similar to that reported by others for two MLH1 mutations in Finnish HNPCC families. We calculated age related risks of all, colorectal, endometrial, and ovarian cancers in nt943+3 A-->T MSH2 mutation carriers (n=76) for all patients and for men and women separately. For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0.86 and 0.57, respectively. The risk of colorectal cancer was significantly higher (p<0.01) in males than females (0.63 v 0.30 and 0.84 v 0.44 at ages 50 and 60 years, respectively). For females there was a high risk of endometrial cancer (0.5 at age 60 years) and premenopausal ovarian cancer (0.2 at 50 years). These intersex differences in colorectal cancer risks have implications for screening programmes and for attempts to identify colorectal cancer susceptibility modifiers.  (+info)

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect. (6/12035)

Spinocerebellar ataxia type 2 is a familial spinocerebellar ataxia with autosomal dominant inheritance. The gene responsible was recently cloned and this disorder was found to be the result of a CAG expansion in its open reading frame. We analysed 13 SCA2 patients in seven unrelated families in Gunma Prefecture, Japan. In four of the seven families, we detected CCG or CCGCCG interruptions in only the expanded alleles. Cosegregation of these polymorphisms with SCA2 patients was established within each family. Together with the results of haplotype analyses, we considered that at least two founders were present in our area and that these (CCG)1-2 polymorphisms may make analysis of founder effects easier. By sequencing analysis we found that although the number of the long CAG repeat varied in each subclone of expanded alleles, these polymorphisms did not change their configuration. This finding suggests that CCG or CCGCCG sequences are stable when surrounded by the long CAG repeat and a single CAG. Moreover, the presence of these polymorphisms may lead to miscounting the repeat size by conventional estimation using a size marker such as an M13 sequencing ladder. Therefore we should consider these polymorphisms and accurately determine the repeat size by sequencing.  (+info)

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. (7/12035)

Derivative 22 (der[22]) syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional t(11;22)(q23;q11) translocation, owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. The trisomic region on chromosome 22 overlaps the region hemizygously deleted in another congenital anomaly disorder, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Most patients with VCFS/DGS have a similar 3-Mb deletion, whereas some have a nested distal deletion endpoint resulting in a 1.5-Mb deletion, and a few rare patients have unique deletions. To define the interval on 22q11 containing the t(11;22) breakpoint, haplotype analysis and FISH mapping were performed for five patients with der(22) syndrome. Analysis of all the patients was consistent with 3:1 meiotic malsegregation in the t(11;22) carrier parent. FISH-mapping studies showed that the t(11;22) breakpoint occurred in the same interval as the 1.5-Mb distal deletion breakpoint for VCFS. The deletion breakpoint of one VCFS patient with an unbalanced t(18;22) translocation also occurred in the same region. Hamster-human somatic hybrid cell lines from a patient with der(22) syndrome and a patient with VCFS showed that the breakpoints occurred in an interval containing low-copy repeats, distal to RANBP1 and proximal to ZNF74. The presence of low-copy repetitive sequences may confer susceptibility to chromosome rearrangements. A 1.5-Mb region of overlap on 22q11 in both syndromes suggests the presence of dosage-dependent genes in this interval.  (+info)

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. (8/12035)

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogeneous form of early-onset familial spastic ataxia with prominent myelinated retinal nerve fibers. More than 300 patients have been identified, and most of their families originated in the Charlevoix-Saguenay region of northeastern Quebec, where the carrier prevalence has been estimated to be 1/22. Consistent with the hypothesis of a founder effect, we observed excess shared homozygosity at 13q11, among patients in a genomewide scan of 12 families. Analysis of 19 pedigrees demonstrated very tight linkage between the ARSACS locus and an intragenic polymorphism of the gamma-sarcoglycan (SGCG) gene, but genomic DNA sequence analysis of all eight exons of SGCG revealed no disease-causing mutation. On the basis of haplotypes composed of seven marker loci that spanned 11.1 cM, the most likely position of the ARSACS locus was 0.42 cM distal to the SGCG polymorphism. Two groups of ARSACS-associated haplotypes were identified: a large group that carries a common SGCG allele and a small group that carries a rare SGCG allele. The haplotype groups do not appear to be closely related. Therefore, although chromosomes within each haplotype group may harbor a single ARSACS mutation identical by descent, the two mutations could have independent origins.  (+info)

A haplotype is a group of genes or DNA sequences that are inherited together from a single parent. It refers to a combination of alleles (variant forms of a gene) that are located on the same chromosome and are usually transmitted as a unit. Haplotypes can be useful in tracing genetic ancestry, understanding the genetic basis of diseases, and developing personalized medical treatments.

In population genetics, haplotypes are often used to study patterns of genetic variation within and between populations. By comparing haplotype frequencies across populations, researchers can infer historical events such as migrations, population expansions, and bottlenecks. Additionally, haplotypes can provide information about the evolutionary history of genes and genomic regions.

In clinical genetics, haplotypes can be used to identify genetic risk factors for diseases or to predict an individual's response to certain medications. For example, specific haplotypes in the HLA gene region have been associated with increased susceptibility to certain autoimmune diseases, while other haplotypes in the CYP450 gene family can affect how individuals metabolize drugs.

Overall, haplotypes provide a powerful tool for understanding the genetic basis of complex traits and diseases, as well as for developing personalized medical treatments based on an individual's genetic makeup.

Single Nucleotide Polymorphism (SNP) is a type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. This alteration must occur in at least 1% of the population to be considered a SNP. These variations can help explain why some people are more susceptible to certain diseases than others and can also influence how an individual responds to certain medications. SNPs can serve as biological markers, helping scientists locate genes that are associated with disease. They can also provide information about an individual's ancestry and ethnic background.

Linkage disequilibrium (LD) is a term used in genetics that refers to the non-random association of alleles at different loci (genetic locations) on a chromosome. This means that certain combinations of genetic variants, or alleles, at different loci occur more frequently together in a population than would be expected by chance.

Linkage disequilibrium can arise due to various factors such as genetic drift, selection, mutation, and population structure. It is often used in the context of genetic mapping studies to identify regions of the genome that are associated with particular traits or diseases. High levels of LD in a region of the genome suggest that the loci within that region are in linkage, meaning they tend to be inherited together.

The degree of LD between two loci can be measured using various statistical methods, such as D' and r-squared. These measures provide information about the strength and direction of the association between alleles at different loci, which can help researchers identify causal genetic variants underlying complex traits or diseases.

Gene frequency, also known as allele frequency, is a measure in population genetics that reflects the proportion of a particular gene or allele (variant of a gene) in a given population. It is calculated as the number of copies of a specific allele divided by the total number of all alleles at that genetic locus in the population.

For example, if we consider a gene with two possible alleles, A and a, the gene frequency of allele A (denoted as p) can be calculated as follows:

p = (number of copies of allele A) / (total number of all alleles at that locus)

Similarly, the gene frequency of allele a (denoted as q) would be:

q = (number of copies of allele a) / (total number of all alleles at that locus)

Since there are only two possible alleles for this gene in this example, p + q = 1. These frequencies can help researchers understand genetic diversity and evolutionary processes within populations.

Genetic variation refers to the differences in DNA sequences among individuals and populations. These variations can result from mutations, genetic recombination, or gene flow between populations. Genetic variation is essential for evolution by providing the raw material upon which natural selection acts. It can occur within a single gene, between different genes, or at larger scales, such as differences in the number of chromosomes or entire sets of chromosomes. The study of genetic variation is crucial in understanding the genetic basis of diseases and traits, as well as the evolutionary history and relationships among species.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Genetic polymorphism refers to the occurrence of multiple forms (called alleles) of a particular gene within a population. These variations in the DNA sequence do not generally affect the function or survival of the organism, but they can contribute to differences in traits among individuals. Genetic polymorphisms can be caused by single nucleotide changes (SNPs), insertions or deletions of DNA segments, or other types of genetic rearrangements. They are important for understanding genetic diversity and evolution, as well as for identifying genetic factors that may contribute to disease susceptibility in humans.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

Population Genetics is a subfield of genetics that deals with the genetic composition of populations and how this composition changes over time. It involves the study of the frequency and distribution of genes and genetic variations in populations, as well as the evolutionary forces that contribute to these patterns, such as mutation, gene flow, genetic drift, and natural selection.

Population genetics can provide insights into a wide range of topics, including the history and relationships between populations, the genetic basis of diseases and other traits, and the potential impacts of environmental changes on genetic diversity. This field is important for understanding evolutionary processes at the population level and has applications in areas such as conservation biology, medical genetics, and forensic science.

Mitochondrial DNA (mtDNA) is the genetic material present in the mitochondria, which are specialized structures within cells that generate energy. Unlike nuclear DNA, which is present in the cell nucleus and inherited from both parents, mtDNA is inherited solely from the mother.

MtDNA is a circular molecule that contains 37 genes, including 13 genes that encode for proteins involved in oxidative phosphorylation, a process that generates energy in the form of ATP. The remaining genes encode for rRNAs and tRNAs, which are necessary for protein synthesis within the mitochondria.

Mutations in mtDNA can lead to a variety of genetic disorders, including mitochondrial diseases, which can affect any organ system in the body. These mutations can also be used in forensic science to identify individuals and establish biological relationships.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

Phylogeny is the evolutionary history and relationship among biological entities, such as species or genes, based on their shared characteristics. In other words, it refers to the branching pattern of evolution that shows how various organisms have descended from a common ancestor over time. Phylogenetic analysis involves constructing a tree-like diagram called a phylogenetic tree, which depicts the inferred evolutionary relationships among organisms or genes based on molecular sequence data or other types of characters. This information is crucial for understanding the diversity and distribution of life on Earth, as well as for studying the emergence and spread of diseases.

DNA Sequence Analysis is the systematic determination of the order of nucleotides in a DNA molecule. It is a critical component of modern molecular biology, genetics, and genetic engineering. The process involves determining the exact order of the four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - in a DNA molecule or fragment. This information is used in various applications such as identifying gene mutations, studying evolutionary relationships, developing molecular markers for breeding, and diagnosing genetic diseases.

The process of DNA Sequence Analysis typically involves several steps, including DNA extraction, PCR amplification (if necessary), purification, sequencing reaction, and electrophoresis. The resulting data is then analyzed using specialized software to determine the exact sequence of nucleotides.

In recent years, high-throughput DNA sequencing technologies have revolutionized the field of genomics, enabling the rapid and cost-effective sequencing of entire genomes. This has led to an explosion of genomic data and new insights into the genetic basis of many diseases and traits.

The Founder Effect is a concept in population genetics that refers to the loss of genetic variation that occurs when a new colony is established by a small number of individuals from a larger population. This decrease in genetic diversity can lead to an increase in homozygosity, which can in turn result in a higher frequency of certain genetic disorders or traits within the founding population and its descendants. The Founder Effect is named after the "founding" members of the new colony who carry and pass on their particular set of genes to the next generations. It is one of the mechanisms that can lead to the formation of distinct populations or even new species over time.

A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.

Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.

HLA-DQ antigens are a type of human leukocyte antigen (HLA) that are found on the surface of cells in our body. They are a part of the major histocompatibility complex (MHC) class II molecules, which play a crucial role in the immune system by presenting pieces of proteins from outside the cell to CD4+ T cells, also known as helper T cells. This presentation process is essential for initiating an appropriate immune response against potentially harmful pathogens such as bacteria and viruses.

HLA-DQ antigens are encoded by genes located on chromosome 6p21.3 in the HLA region. Each individual inherits a pair of HLA-DQ genes, one from each parent, which can result in various combinations of HLA-DQ alleles. These genetic variations contribute to the diversity of immune responses among different individuals.

HLA-DQ antigens consist of two noncovalently associated polypeptide chains: an alpha (DQA) chain and a beta (DQB) chain. There are several isotypes of HLA-DQ antigens, including DQ1, DQ2, DQ3, DQ4, DQ5, DQ6, DQ7, DQ8, and DQ9, which are determined by the specific combination of DQA and DQB alleles.

Certain HLA-DQ genotypes have been associated with an increased risk of developing certain autoimmune diseases, such as celiac disease (DQ2 and DQ8), type 1 diabetes (DQ2, DQ8), and rheumatoid arthritis (DQ4). Understanding the role of HLA-DQ antigens in these conditions can provide valuable insights into disease pathogenesis and potential therapeutic targets.

Microsatellite repeats, also known as short tandem repeats (STRs), are repetitive DNA sequences made up of units of 1-6 base pairs that are repeated in a head-to-tail manner. These repeats are spread throughout the human genome and are highly polymorphic, meaning they can have different numbers of repeat units in different individuals.

Microsatellites are useful as genetic markers because of their high degree of variability. They are commonly used in forensic science to identify individuals, in genealogy to trace ancestry, and in medical research to study genetic diseases and disorders. Mutations in microsatellite repeats have been associated with various neurological conditions, including Huntington's disease and fragile X syndrome.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Restriction Fragment Length Polymorphism (RFLP) is a term used in molecular biology and genetics. It refers to the presence of variations in DNA sequences among individuals, which can be detected by restriction enzymes. These enzymes cut DNA at specific sites, creating fragments of different lengths.

In RFLP analysis, DNA is isolated from an individual and treated with a specific restriction enzyme that cuts the DNA at particular recognition sites. The resulting fragments are then separated by size using gel electrophoresis, creating a pattern unique to that individual's DNA. If there are variations in the DNA sequence between individuals, the restriction enzyme may cut the DNA at different sites, leading to differences in the length of the fragments and thus, a different pattern on the gel.

These variations can be used for various purposes, such as identifying individuals, diagnosing genetic diseases, or studying evolutionary relationships between species. However, RFLP analysis has largely been replaced by more modern techniques like polymerase chain reaction (PCR)-based methods and DNA sequencing, which offer higher resolution and throughput.

HLA-DQ beta-chains are a type of human leukocyte antigen (HLA) molecule found on the surface of cells in the human body. The HLAs are a group of proteins that play an important role in the immune system by helping the body recognize and respond to foreign substances, such as viruses and bacteria.

The HLA-DQ beta-chains are part of the HLA-DQ complex, which is a heterodimer made up of two polypeptide chains: an alpha chain (HLA-DQ alpha) and a beta chain (HLA-DQ beta). These chains are encoded by genes located on chromosome 6 in the major histocompatibility complex (MHC) region.

The HLA-DQ complex is involved in presenting peptides to CD4+ T cells, which are a type of white blood cell that plays a central role in the immune response. The peptides presented by the HLA-DQ complex are derived from proteins that have been processed within the cell, and they are used to help the CD4+ T cells recognize and respond to infected or abnormal cells.

Variations in the genes that encode the HLA-DQ beta-chains can affect an individual's susceptibility to certain diseases, including autoimmune disorders and infectious diseases.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

HLA-DRB1 chains are part of the major histocompatibility complex (MHC) class II molecules in the human body. The MHC class II molecules play a crucial role in the immune system by presenting pieces of foreign proteins to CD4+ T cells, which then stimulate an immune response.

HLA-DRB1 chains are one of the two polypeptide chains that make up the HLA-DR heterodimer, the other chain being the HLA-DRA chain. The HLA-DRB1 chain contains specific regions called antigen-binding sites, which bind to and present foreign peptides to CD4+ T cells.

The HLA-DRB1 gene is highly polymorphic, meaning that there are many different variations or alleles of this gene in the human population. These variations can affect an individual's susceptibility or resistance to certain diseases, including autoimmune disorders and infectious diseases. Therefore, the identification and characterization of HLA-DRB1 alleles have important implications for disease diagnosis, treatment, and prevention.

Genetic models are theoretical frameworks used in genetics to describe and explain the inheritance patterns and genetic architecture of traits, diseases, or phenomena. These models are based on mathematical equations and statistical methods that incorporate information about gene frequencies, modes of inheritance, and the effects of environmental factors. They can be used to predict the probability of certain genetic outcomes, to understand the genetic basis of complex traits, and to inform medical management and treatment decisions.

There are several types of genetic models, including:

1. Mendelian models: These models describe the inheritance patterns of simple genetic traits that follow Mendel's laws of segregation and independent assortment. Examples include autosomal dominant, autosomal recessive, and X-linked inheritance.
2. Complex trait models: These models describe the inheritance patterns of complex traits that are influenced by multiple genes and environmental factors. Examples include heart disease, diabetes, and cancer.
3. Population genetics models: These models describe the distribution and frequency of genetic variants within populations over time. They can be used to study evolutionary processes, such as natural selection and genetic drift.
4. Quantitative genetics models: These models describe the relationship between genetic variation and phenotypic variation in continuous traits, such as height or IQ. They can be used to estimate heritability and to identify quantitative trait loci (QTLs) that contribute to trait variation.
5. Statistical genetics models: These models use statistical methods to analyze genetic data and infer the presence of genetic associations or linkage. They can be used to identify genetic risk factors for diseases or traits.

Overall, genetic models are essential tools in genetics research and medical genetics, as they allow researchers to make predictions about genetic outcomes, test hypotheses about the genetic basis of traits and diseases, and develop strategies for prevention, diagnosis, and treatment.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

The term "European Continental Ancestry Group" is a medical/ethnic classification that refers to individuals who trace their genetic ancestry to the continent of Europe. This group includes people from various ethnic backgrounds and nationalities, such as Northern, Southern, Eastern, and Western European descent. It is often used in research and medical settings for population studies or to identify genetic patterns and predispositions to certain diseases that may be more common in specific ancestral groups. However, it's important to note that this classification can oversimplify the complex genetic diversity within and between populations, and should be used with caution.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

HLA-DR antigens are a type of human leukocyte antigen (HLA) class II molecule that plays a crucial role in the immune system. They are found on the surface of antigen-presenting cells, such as dendritic cells, macrophages, and B lymphocytes. HLA-DR molecules present peptide antigens to CD4+ T cells, also known as helper T cells, thereby initiating an immune response.

HLA-DR antigens are highly polymorphic, meaning that there are many different variants of these molecules in the human population. This diversity allows for a wide range of potential peptide antigens to be presented and recognized by the immune system. HLA-DR antigens are encoded by genes located on chromosome 6 in the major histocompatibility complex (MHC) region.

In transplantation, HLA-DR compatibility between donor and recipient is an important factor in determining the success of the transplant. Incompatibility can lead to a heightened immune response against the transplanted organ or tissue, resulting in rejection. Additionally, certain HLA-DR types have been associated with increased susceptibility to autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis.

HLA (Human Leukocyte Antigen) antigens are a group of proteins found on the surface of cells in our body. They play a crucial role in the immune system's ability to differentiate between "self" and "non-self." HLA antigens are encoded by a group of genes located on chromosome 6, known as the major histocompatibility complex (MHC).

There are three types of HLA antigens: HLA class I, HLA class II, and HLA class III. HLA class I antigens are found on the surface of almost all cells in the body and help the immune system recognize and destroy virus-infected or cancerous cells. They consist of three components: HLA-A, HLA-B, and HLA-C.

HLA class II antigens are primarily found on the surface of immune cells, such as macrophages, B cells, and dendritic cells. They assist in the presentation of foreign particles (like bacteria and viruses) to CD4+ T cells, which then activate other parts of the immune system. HLA class II antigens include HLA-DP, HLA-DQ, and HLA-DR.

HLA class III antigens consist of various molecules involved in immune responses, such as cytokines and complement components. They are not directly related to antigen presentation.

The genetic diversity of HLA antigens is extensive, with thousands of variations or alleles. This diversity allows for a better ability to recognize and respond to a wide range of pathogens. However, this variation can also lead to compatibility issues in organ transplantation, as the recipient's immune system may recognize the donor's HLA antigens as foreign and attack the transplanted organ.

The term "Asian Continental Ancestry Group" is a medical/ethnic classification used to describe a person's genetic background and ancestry. According to this categorization, individuals with origins in the Asian continent are grouped together. This includes populations from regions such as East Asia (e.g., China, Japan, Korea), South Asia (e.g., India, Pakistan, Bangladesh), Southeast Asia (e.g., Philippines, Indonesia, Thailand), and Central Asia (e.g., Kazakhstan, Uzbekistan, Tajikistan). It is important to note that this broad categorization may not fully capture the genetic diversity within these regions or accurately reflect an individual's specific ancestral origins.

The Major Histocompatibility Complex (MHC) is a group of cell surface proteins in vertebrates that play a central role in the adaptive immune system. They are responsible for presenting peptide antigens to T-cells, which helps the immune system distinguish between self and non-self. The MHC is divided into two classes:

1. MHC Class I: These proteins present endogenous (intracellular) peptides to CD8+ T-cells (cytotoxic T-cells). The MHC class I molecule consists of a heavy chain and a light chain, together with an antigenic peptide.

2. MHC Class II: These proteins present exogenous (extracellular) peptides to CD4+ T-cells (helper T-cells). The MHC class II molecule is composed of two heavy chains and two light chains, together with an antigenic peptide.

MHC genes are highly polymorphic, meaning there are many different alleles within a population. This diversity allows for better recognition and presentation of various pathogens, leading to a more robust immune response. The term "histocompatibility" refers to the compatibility between donor and recipient MHC molecules in tissue transplantation. Incompatible MHC molecules can lead to rejection of the transplanted tissue due to an activated immune response against the foreign MHC antigens.

I'm sorry for any confusion, but "geography" is not a term that has a medical definition. Geography is a field of study that deals with the location and distribution of physical and cultural features on Earth's surface, as well as how humans interact with and affect those features. It is not a concept that is typically used in a medical context. If you have any questions related to medicine or healthcare, I would be happy to try to help answer them for you!

Molecular evolution is the process of change in the DNA sequence or protein structure over time, driven by mechanisms such as mutation, genetic drift, gene flow, and natural selection. It refers to the evolutionary study of changes in DNA, RNA, and proteins, and how these changes accumulate and lead to new species and diversity of life. Molecular evolution can be used to understand the history and relationships among different organisms, as well as the functional consequences of genetic changes.

Genetic association studies are a type of epidemiological research that aims to identify statistical associations between genetic variations and particular traits or diseases. These studies typically compare the frequency of specific genetic markers, such as single nucleotide polymorphisms (SNPs), in individuals with a given trait or disease to those without it.

The goal of genetic association studies is to identify genetic factors that contribute to the risk of developing common complex diseases, such as diabetes, heart disease, or cancer. By identifying these genetic associations, researchers hope to gain insights into the underlying biological mechanisms of these diseases and develop new strategies for prevention, diagnosis, and treatment.

It's important to note that while genetic association studies can identify statistical associations between genetic markers and traits or diseases, they cannot prove causality. Further research is needed to confirm and validate these findings and to understand the functional consequences of the identified genetic variants.

HLA-DQ alpha-chains are a type of human leukocyte antigen (HLA) class II molecule found on the surface of various cells in the body, including immune cells such as B lymphocytes and dendritic cells. HLAs play a critical role in the immune system by presenting pieces of proteins from inside the cell to T-cells, which are responsible for mounting an immune response against potentially harmful pathogens or abnormal cells.

The HLA-DQ alpha-chain is one component of the HLA-DQ heterodimer, which also includes a beta-chain. Together, these two chains form a functional HLA-DQ molecule that can bind and present peptides to CD4+ T-cells (also known as helper T-cells). The HLA-DQ complex is involved in the immune response to various pathogens, including bacteria, viruses, and parasites.

Polymorphisms (variations) in the genes encoding HLA-DQ alpha-chains can contribute to differences in individual susceptibility to certain autoimmune diseases, such as type 1 diabetes, celiac disease, and rheumatoid arthritis. Additionally, specific HLA-DQ genotypes have been associated with increased or decreased risk for these conditions.

Phylogeography is not a medical term, but rather a subfield of biogeography and phylogenetics that investigates the spatial distribution of genealogical lineages and the historical processes that have shaped them. It uses genetic data to infer the geographic origins, dispersal routes, and demographic history of organisms, including pathogens and vectors that can affect human health.

In medical and public health contexts, phylogeography is often used to study the spread of infectious diseases, such as HIV/AIDS, influenza, or tuberculosis, by analyzing the genetic diversity and geographic distribution of pathogen isolates. This information can help researchers understand how diseases emerge, evolve, and move across populations and landscapes, which can inform disease surveillance, control, and prevention strategies.

The Y chromosome is one of the two sex-determining chromosomes in humans and many other animals, along with the X chromosome. The Y chromosome contains the genetic information that helps to determine an individual's sex as male. It is significantly smaller than the X chromosome and contains fewer genes.

The Y chromosome is present in males, who inherit it from their father. Females, on the other hand, have two X chromosomes, one inherited from each parent. The Y chromosome includes a gene called SRY (sex-determining region Y), which initiates the development of male sexual characteristics during embryonic development.

It is worth noting that the Y chromosome has a relatively high rate of genetic mutation and degeneration compared to other chromosomes, leading to concerns about its long-term viability in human evolution. However, current evidence suggests that the Y chromosome has been stable for at least the past 25 million years.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

HLA-DR3 antigen is a type of human leukocyte antigen (HLA) class II histocompatibility antigen. HLAs are proteins found on the surface of cells that help the immune system distinguish between the body's own cells and foreign substances. The HLA-DR3 antigen is encoded by the DRB1*03:01 gene and is commonly found in individuals with certain autoimmune diseases, such as rheumatoid arthritis, type 1 diabetes, and celiac disease.

The HLA-DR3 antigen plays a role in presenting pieces of proteins (peptides) to CD4+ T cells, which are a type of white blood cell that helps coordinate the immune response. The presentation of specific peptides by the HLA-DR3 antigen can lead to an abnormal immune response in some individuals, resulting in the development of autoimmune diseases.

It's important to note that having the HLA-DR3 antigen does not guarantee that a person will develop an autoimmune disease, as other genetic and environmental factors also play a role.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

Major Histocompatibility Complex (MHC) Class II genes are a group of genes that encode cell surface proteins responsible for presenting peptide antigens to CD4+ T cells, which are crucial in the adaptive immune response. These proteins are expressed mainly on professional antigen-presenting cells such as dendritic cells, macrophages, and B cells. MHC Class II molecules present extracellular antigens derived from bacteria, viruses, and other pathogens, facilitating the activation of appropriate immune responses to eliminate the threat. The genes responsible for these proteins are found within the MHC locus on chromosome 6 in humans (chromosome 17 in mice).

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

HLA-B antigens are human leukocyte antigen (HLA) proteins found on the surface of cells that play an important role in the body's immune system. They are part of the major histocompatibility complex (MHC) class I molecules, which present pieces of proteins from inside the cell to T-cells, a type of white blood cell involved in immune responses.

HLA-B antigens are highly polymorphic, meaning that there are many different variations or alleles of this gene in the human population. This genetic diversity allows for a wide range of potential HLA-B proteins to be expressed, which can help recognize and respond to a variety of foreign substances, such as viruses and cancer cells.

The HLA-B antigens are inherited from both parents, and an individual may express one or two different HLA-B antigens depending on their genetic makeup. The specific combination of HLA-B antigens that a person expresses can have implications for their susceptibility to certain diseases, as well as their compatibility with organ transplants.

I'm sorry for any confusion, but it seems there might be a misunderstanding in your question. Genealogy and heraldry are two distinct subjects, each with its own definition. I will provide you with their separate definitions:

1. Genealogy - This is the study of family history, lineages, and descent. It involves researching ancestral origins, relationships, and historical records to construct a family tree or pedigree. Genealogists use various resources like birth, marriage, and death certificates; census records; church records; and DNA testing to trace the connections between individuals and families over generations.

2. Heraldry - This is the study of armorial bearings, also known as coats of arms. Heraldry involves the design, description, and use of these symbols, which were historically used by nobility, knights, and other privileged classes to identify themselves in battle, on seals, and in civic life. The heraldic elements often include shields, helmets, crests, mottoes, and other insignia that convey information about the bearer's ancestry, rank, occupation, or achievements.

While genealogy and heraldry can sometimes intersect (e.g., when studying the historical records of noble families with coats of arms), they are not inherently related as subjects within the medical field.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Chloroplast DNA (cpDNA) refers to the genetic material present in the chloroplasts, which are organelles found in the cells of photosynthetic organisms such as plants, algae, and some bacteria. Chloroplasts are responsible for capturing sunlight energy and converting it into chemical energy through the process of photosynthesis.

Chloroplast DNA is circular and contains a small number of genes compared to the nuclear genome. It encodes for some of the essential components required for chloroplast function, including proteins involved in photosynthesis, transcription, and translation. The majority of chloroplast proteins are encoded by the nuclear genome and are imported into the chloroplast after being synthesized in the cytoplasm.

Chloroplast DNA is inherited maternally in most plants, meaning that it is passed down from the maternal parent to their offspring through the egg cell. This mode of inheritance has been used in plant breeding and genetic engineering to introduce desirable traits into crops.

Genetic recombination is the process by which genetic material is exchanged between two similar or identical molecules of DNA during meiosis, resulting in new combinations of genes on each chromosome. This exchange occurs during crossover, where segments of DNA are swapped between non-sister homologous chromatids, creating genetic diversity among the offspring. It is a crucial mechanism for generating genetic variability and facilitating evolutionary change within populations. Additionally, recombination also plays an essential role in DNA repair processes through mechanisms such as homologous recombinational repair (HRR) and non-homologous end joining (NHEJ).

Cytochromes b are a group of electron transport proteins that contain a heme c group, which is the prosthetic group responsible for their redox activity. They play a crucial role in the electron transport chain (ETC) located in the inner mitochondrial membrane of eukaryotic cells and in the plasma membrane of prokaryotic cells.

The cytochromes b are part of Complex III, also known as the cytochrome bc1 complex or ubiquinol-cytochrome c reductase, in the ETC. In this complex, they function as electron carriers between ubiquinone (Q) and cytochrome c, participating in the process of oxidative phosphorylation to generate ATP.

There are multiple isoforms of cytochromes b found in various organisms, with different numbers of subunits and structures. However, they all share a common function as essential components of the electron transport chain, facilitating the transfer of electrons during cellular respiration and energy production.

Human Y chromosomes are one of the two sex-determining chromosomes in humans (the other being the X chromosome). They are found in the 23rd pair of human chromosomes and are significantly smaller than the X chromosome.

The Y chromosome is passed down from father to son through the paternal line, and it plays a crucial role in male sex determination. The SRY gene (sex-determining region Y) on the Y chromosome initiates the development of male sexual characteristics during embryonic development.

In addition to the SRY gene, the human Y chromosome contains several other genes that are essential for sperm production and male fertility. However, the Y chromosome has a much lower gene density compared to other chromosomes, with only about 80 protein-coding genes, making it one of the most gene-poor chromosomes in the human genome.

Because of its small size and low gene density, the Y chromosome is particularly susceptible to genetic mutations and deletions, which can lead to various genetic disorders and male infertility. Nonetheless, the Y chromosome remains a critical component of human genetics and evolution, providing valuable insights into sex determination, inheritance patterns, and human diversity.

I apologize for any confusion, but "Bahrain" is not a medical term or concept. It is an island country located in the Persian Gulf. If you have any questions related to medicine or health, I would be happy to try and help answer them.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

I am not aware of a specific medical definition for the term "China." Generally, it is used to refer to:

1. The People's Republic of China (PRC), which is a country in East Asia. It is the most populous country in the world and the fourth largest by geographical area. Its capital city is Beijing.
2. In a historical context, "China" was used to refer to various dynasties and empires that existed in East Asia over thousands of years. The term "Middle Kingdom" or "Zhongguo" (中国) has been used by the Chinese people to refer to their country for centuries.
3. In a more general sense, "China" can also be used to describe products or goods that originate from or are associated with the People's Republic of China.

If you have a specific context in which you encountered the term "China" related to medicine, please provide it so I can give a more accurate response.

The term "African Continental Ancestry Group" is a racial category used in the field of genetics and population health to describe individuals who have ancestral origins in the African continent. This group includes people from diverse ethnic backgrounds, cultures, and languages across the African continent. It's important to note that this term is used for genetic and epidemiological research purposes and should not be used to make assumptions about an individual's personal identity, culture, or experiences.

It's also worth noting that there is significant genetic diversity within Africa, and using a single category to describe all individuals with African ancestry can oversimplify this diversity. Therefore, it's more accurate and informative to specify the particular population or region of African ancestry when discussing genetic research or health outcomes.

HLA-B8 antigen is a type of human leukocyte antigen (HLA) class I histocompatibility antigen. HLAs are proteins that play an important role in the body's immune system by helping to distinguish between the body's own cells and foreign substances such as viruses and bacteria.

The HLA-B8 antigen is a specific variant of the HLA-B gene, which is located on chromosome 6. It is commonly found in approximately 10% of the Caucasian population and is associated with an increased risk of certain autoimmune diseases such as coeliac disease, type 1 diabetes, and autoimmune thyroid disease.

It's important to note that while having the HLA-B8 antigen may increase the risk of developing these conditions, it does not necessarily mean that the person will definitely develop the disease. Other genetic and environmental factors also play a role in the development of these conditions.

I'm sorry for any confusion, but the term "Africa" actually refers to a continent, not a medical condition or concept. Africa is the second-largest continent in the world, consisting of 54 countries and a wide range of diverse ethnic groups, cultures, languages, and landscapes. It is home to a vast array of wildlife, including many species that are not found anywhere else in the world. If you have any questions about Africa's geography, history, or culture, I would be happy to try to help answer them!

HLA-A antigens are a type of human leukocyte antigen (HLA) found on the surface of cells in our body. They are proteins that play an important role in the immune system by helping the body recognize and distinguish its own cells from foreign substances such as viruses, bacteria, and transplanted organs.

The HLA-A antigens are part of the major histocompatibility complex (MHC) class I molecules, which present peptide fragments from inside the cell to CD8+ T cells, also known as cytotoxic T lymphocytes (CTLs). The CTLs then recognize and destroy any cells that display foreign or abnormal peptides on their HLA-A antigens.

Each person has a unique set of HLA-A antigens, which are inherited from their parents. These antigens can vary widely between individuals, making it important to match HLA types in organ transplantation to reduce the risk of rejection. Additionally, certain HLA-A antigens have been associated with increased susceptibility or resistance to various diseases, including autoimmune disorders and infectious diseases.

A gene pool refers to the total sum of genes contained within a population of interbreeding individuals of a species. It includes all the variations of genes, or alleles, that exist in that population. The concept of a gene pool is important in understanding genetic diversity and how traits are passed down from one generation to the next.

The size and diversity of a gene pool can have significant implications for the long-term survival and adaptability of a species. A larger and more diverse gene pool can provide a species with greater resistance to diseases, environmental changes, and other threats, as there is a wider variety of traits and genetic combinations available. On the other hand, a smaller or less diverse gene pool may make a species more susceptible to genetic disorders, reduced fitness, and extinction.

Geneticists and population biologists often study gene pools to understand the evolutionary history and dynamics of populations, as well as to inform conservation efforts for endangered species.

I'm sorry for any confusion, but "Polynesia" is not a medical term. It is a geographical region in the Pacific Ocean, consisting of numerous island countries and territories. If you have any questions related to medical terminology or health, I would be happy to try and help answer those for you.

I'm sorry for any confusion, but the term "Europe" is a geographical and political designation, rather than a medical one. It refers to the continent located entirely in the Northern Hemisphere and mostly in the Eastern Hemisphere. It is bordered by the Arctic Ocean to the north, the Atlantic Ocean to the west, and the Mediterranean Sea to the south. Europe is made up of approximately 50 countries, depending on how one defines a "country."

If you have any questions related to medical terminology or health-related topics, I'd be happy to help answer them!

"Likelihood functions" is a statistical concept that is used in medical research and other fields to estimate the probability of obtaining a given set of data, given a set of assumptions or parameters. In other words, it is a function that describes how likely it is to observe a particular outcome or result, based on a set of model parameters.

More formally, if we have a statistical model that depends on a set of parameters θ, and we observe some data x, then the likelihood function is defined as:

L(θ | x) = P(x | θ)

This means that the likelihood function describes the probability of observing the data x, given a particular value of the parameter vector θ. By convention, the likelihood function is often expressed as a function of the parameters, rather than the data, so we might instead write:

L(θ) = P(x | θ)

The likelihood function can be used to estimate the values of the model parameters that are most consistent with the observed data. This is typically done by finding the value of θ that maximizes the likelihood function, which is known as the maximum likelihood estimator (MLE). The MLE has many desirable statistical properties, including consistency, efficiency, and asymptotic normality.

In medical research, likelihood functions are often used in the context of Bayesian analysis, where they are combined with prior distributions over the model parameters to obtain posterior distributions that reflect both the observed data and prior knowledge or assumptions about the parameter values. This approach is particularly useful when there is uncertainty or ambiguity about the true value of the parameters, as it allows researchers to incorporate this uncertainty into their analyses in a principled way.

Major Histocompatibility Complex (MHC) class I genes are a group of genes that encode proteins found on the surface of most nucleated cells in the body. These proteins play a crucial role in the immune system by presenting pieces of protein from inside the cell to T-cells, which are a type of white blood cell. This process allows the immune system to detect and respond to cells that have been infected by viruses or become cancerous.

MHC class I genes are highly polymorphic, meaning there are many different variations of these genes in the population. This diversity is important for the immune system's ability to recognize and respond to a wide variety of pathogens. The MHC class I proteins are composed of three main regions: the heavy chain, which is encoded by the MHC class I gene; a short peptide, which is derived from inside the cell; and a light chain called beta-2 microglobulin, which is not encoded by an MHC gene.

There are three major types of MHC class I genes in humans, known as HLA-A, HLA-B, and HLA-C. These genes are located on chromosome 6 and are among the most polymorphic genes in the human genome. The products of these genes are critical for the immune system's ability to distinguish between self and non-self, and play a key role in organ transplant rejection.

Promoter regions in genetics refer to specific DNA sequences located near the transcription start site of a gene. They serve as binding sites for RNA polymerase and various transcription factors that regulate the initiation of gene transcription. These regulatory elements help control the rate of transcription and, therefore, the level of gene expression. Promoter regions can be composed of different types of sequences, such as the TATA box and CAAT box, and their organization and composition can vary between different genes and species.

Genetic selection, also known as natural selection, is a fundamental mechanism of evolution. It refers to the process by which certain heritable traits become more or less common in a population over successive generations due to differential reproduction of organisms with those traits.

In genetic selection, traits that increase an individual's fitness (its ability to survive and reproduce) are more likely to be passed on to the next generation, while traits that decrease fitness are less likely to be passed on. This results in a gradual change in the distribution of traits within a population over time, leading to adaptation to the environment and potentially speciation.

Genetic selection can occur through various mechanisms, including viability selection (differential survival), fecundity selection (differences in reproductive success), and sexual selection (choices made by individuals during mating). The process of genetic selection is driven by environmental pressures, such as predation, competition for resources, and changes in the availability of food or habitat.

A genetic locus (plural: loci) is a specific location on a chromosome where a particular gene or DNA sequence is found. It is the precise position where a specific genetic element, such as a gene or marker, is located on a chromsomere. This location is defined in terms of its relationship to other genetic markers and features on the same chromosome. Genetic loci can be used in linkage and association studies to identify the inheritance patterns and potential relationships between genes and various traits or diseases.

An algorithm is not a medical term, but rather a concept from computer science and mathematics. In the context of medicine, algorithms are often used to describe step-by-step procedures for diagnosing or managing medical conditions. These procedures typically involve a series of rules or decision points that help healthcare professionals make informed decisions about patient care.

For example, an algorithm for diagnosing a particular type of heart disease might involve taking a patient's medical history, performing a physical exam, ordering certain diagnostic tests, and interpreting the results in a specific way. By following this algorithm, healthcare professionals can ensure that they are using a consistent and evidence-based approach to making a diagnosis.

Algorithms can also be used to guide treatment decisions. For instance, an algorithm for managing diabetes might involve setting target blood sugar levels, recommending certain medications or lifestyle changes based on the patient's individual needs, and monitoring the patient's response to treatment over time.

Overall, algorithms are valuable tools in medicine because they help standardize clinical decision-making and ensure that patients receive high-quality care based on the latest scientific evidence.

Gene flow, also known as genetic migration or gene admixture, refers to the transfer of genetic variation from one population to another. It occurs when individuals reproduce and exchange genes with members of other populations through processes such as migration and interbreeding. This can result in an alteration of the genetic composition of both populations, increasing genetic diversity and reducing the differences between them. Gene flow is an important mechanism in evolutionary biology and population genetics, contributing to the distribution and frequency of alleles (versions of a gene) within and across populations.

HLA-A1 antigen is a type of human leukocyte antigen (HLA) class I molecule that plays an important role in the immune system. The HLAs are proteins found on the surface of cells that help the immune system distinguish between the body's own cells and foreign substances, such as viruses and bacteria.

The HLA-A1 antigen is one of several different types of HLA-A molecules, and it is determined by a specific set of genes located on chromosome 6. The HLA-A1 antigen is expressed on the surface of some cells in the human body and can be detected through laboratory testing.

The HLA-A1 antigen is associated with certain diseases or conditions, such as an increased risk of developing certain types of cancer or autoimmune disorders. It is also used as a marker for tissue typing in organ transplantation to help match donors and recipients and reduce the risk of rejection.

It's important to note that the presence or absence of HLA-A1 antigen alone does not determine whether someone will develop a particular disease or experience a successful organ transplant. Other genetic and environmental factors also play a role in these outcomes.

Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.

An ethnic group is a category of people who identify with each other based on shared ancestry, language, culture, history, and/or physical characteristics. The concept of an ethnic group is often used in the social sciences to describe a population that shares a common identity and a sense of belonging to a larger community.

Ethnic groups can be distinguished from racial groups, which are categories of people who are defined by their physical characteristics, such as skin color, hair texture, and facial features. While race is a social construct based on physical differences, ethnicity is a cultural construct based on shared traditions, beliefs, and practices.

It's important to note that the concept of ethnic groups can be complex and fluid, as individuals may identify with multiple ethnic groups or switch their identification over time. Additionally, the boundaries between different ethnic groups can be blurred and contested, and the ways in which people define and categorize themselves and others can vary across cultures and historical periods.

I believe you are asking for a description or explanation of the indigenous peoples of South America, rather than a "medical definition." A medical definition would typically apply to a condition or disease. Here is some information about the indigenous peoples of South America:

The indigenous peoples of South America are the original inhabitants of the continent and its islands, who lived there before the European colonization. They include a wide variety of ethnic groups, languages, and cultures, with distinct histories and traditions. Many indigenous communities in South America have faced significant challenges, including displacement from their lands, marginalization, and discrimination.

According to estimates by the United Nations, there are approximately 45 million indigenous people in Latin America, of which about 30 million live in South America. They represent around 7% of the total population of South America. Indigenous peoples in South America can be found in all countries, with the largest populations in Bolivia (62%), Guatemala (41%), and Peru (25%).

Indigenous peoples in South America have a rich cultural heritage, including unique languages, arts, and spiritual practices. Many of these cultures are under threat due to globalization, urbanization, and the loss of traditional lands and resources. In recent years, there has been increased recognition of the rights of indigenous peoples in international law, including the right to self-determination, cultural heritage, and free, prior, and informed consent for projects that affect their territories. However, significant challenges remain, and many indigenous communities continue to face violence, discrimination, and poverty.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Quantitative Trait Loci (QTL) are regions of the genome that are associated with variation in quantitative traits, which are traits that vary continuously in a population and are influenced by multiple genes and environmental factors. QTLs can help to explain how genetic variations contribute to differences in complex traits such as height, blood pressure, or disease susceptibility.

Quantitative trait loci are identified through statistical analysis of genetic markers and trait values in experimental crosses between genetically distinct individuals, such as strains of mice or plants. The location of a QTL is inferred based on the pattern of linkage disequilibrium between genetic markers and the trait of interest. Once a QTL has been identified, further analysis can be conducted to identify the specific gene or genes responsible for the variation in the trait.

It's important to note that QTLs are not themselves genes, but rather genomic regions that contain one or more genes that contribute to the variation in a quantitative trait. Additionally, because QTLs are identified through statistical analysis, they represent probabilistic estimates of the location of genetic factors influencing a trait and may encompass large genomic regions containing multiple genes. Therefore, additional research is often required to fine-map and identify the specific genes responsible for the variation in the trait.

Species specificity is a term used in the field of biology, including medicine, to refer to the characteristic of a biological entity (such as a virus, bacterium, or other microorganism) that allows it to interact exclusively or preferentially with a particular species. This means that the biological entity has a strong affinity for, or is only able to infect, a specific host species.

For example, HIV is specifically adapted to infect human cells and does not typically infect other animal species. Similarly, some bacterial toxins are species-specific and can only affect certain types of animals or humans. This concept is important in understanding the transmission dynamics and host range of various pathogens, as well as in developing targeted therapies and vaccines.

DNA primers are short single-stranded DNA molecules that serve as a starting point for DNA synthesis. They are typically used in laboratory techniques such as the polymerase chain reaction (PCR) and DNA sequencing. The primer binds to a complementary sequence on the DNA template through base pairing, providing a free 3'-hydroxyl group for the DNA polymerase enzyme to add nucleotides and synthesize a new strand of DNA. This allows for specific and targeted amplification or analysis of a particular region of interest within a larger DNA molecule.

Medical Definition:

"Risk factors" are any attribute, characteristic or exposure of an individual that increases the likelihood of developing a disease or injury. They can be divided into modifiable and non-modifiable risk factors. Modifiable risk factors are those that can be changed through lifestyle choices or medical treatment, while non-modifiable risk factors are inherent traits such as age, gender, or genetic predisposition. Examples of modifiable risk factors include smoking, alcohol consumption, physical inactivity, and unhealthy diet, while non-modifiable risk factors include age, sex, and family history. It is important to note that having a risk factor does not guarantee that a person will develop the disease, but rather indicates an increased susceptibility.

A human genome is the complete set of genetic information contained within the 23 pairs of chromosomes found in the nucleus of most human cells. It includes all of the genes, which are segments of DNA that contain the instructions for making proteins, as well as non-coding regions of DNA that regulate gene expression and provide structural support to the chromosomes.

The human genome contains approximately 3 billion base pairs of DNA and is estimated to contain around 20,000-25,000 protein-coding genes. The sequencing of the human genome was completed in 2003 as part of the Human Genome Project, which has had a profound impact on our understanding of human biology, disease, and evolution.

I believe there may be some confusion in your question. "Wolves" are not a medical term, but rather they refer to a large canine species. If you're asking about a medical condition that might be referred to as "wolf," the closest possible term I could find is "wolfian development." This term refers to the development of structures in the human body that originate from the wolfian ducts during embryonic development, such as the epididymis, vas deferens, and seminal vesicles in males. However, I want to emphasize that this is not a common medical term and might not be what you're looking for.

I'm sorry for any confusion, but "South America" is not a medical term. It is a geographical term that refers to the southern portion of the Americas, which is a continent in the Western Hemisphere. South America is generally defined as including the countries of Argentina, Bolivia, Brazil, Chile, Colombia, Ecuador, Guyana, Paraguay, Peru, Suriname, Uruguay, and Venezuela, as well as the overseas departments and territories of French Guiana (France), and the Falkland Islands (UK).

If you have any questions related to medical terminology or health-related topics, I would be happy to help answer them for you.

I apologize for any confusion, but "Asia" is not a medical term. It is the largest continent in the world, comprising about 30% of the Earth's total land area and containing around 60% of the world's current human population. It is divided into several regions, including Northern Asia (Siberia), Eastern Asia (China, Japan, Korea, Mongolia, Taiwan), Southern Asia (India, Pakistan, Bangladesh, Sri Lanka, Maldives), Southeastern Asia (Vietnam, Thailand, Indonesia, Philippines, Malaysia, Singapore, Myanmar, Cambodia, Laos, Brunei), and Western Asia (Middle East).

If you have any questions related to medical terminology or health-related topics, I'd be happy to help.

Introns are non-coding sequences of DNA that are present within the genes of eukaryotic organisms, including plants, animals, and humans. Introns are removed during the process of RNA splicing, in which the initial RNA transcript is cut and reconnected to form a mature, functional RNA molecule.

After the intron sequences are removed, the remaining coding sequences, known as exons, are joined together to create a continuous stretch of genetic information that can be translated into a protein or used to produce non-coding RNAs with specific functions. The removal of introns allows for greater flexibility in gene expression and regulation, enabling the generation of multiple proteins from a single gene through alternative splicing.

In summary, introns are non-coding DNA sequences within genes that are removed during RNA processing to create functional RNA molecules or proteins.

Diabetes Mellitus, Type 1 is a chronic autoimmune disease characterized by the destruction of insulin-producing beta cells in the pancreas, leading to an absolute deficiency of insulin. This results in an inability to regulate blood glucose levels, causing hyperglycemia (high blood sugar). Type 1 diabetes typically presents in childhood or early adulthood, although it can develop at any age. It is usually managed with regular insulin injections or the use of an insulin pump, along with monitoring of blood glucose levels and adjustments to diet and physical activity. Uncontrolled type 1 diabetes can lead to serious complications such as kidney damage, nerve damage, blindness, and cardiovascular disease.

HLA-C antigens are a type of human leukocyte antigen (HLA) found on the surface of cells in the human body. They are part of the major histocompatibility complex (MHC) class I molecules, which play a critical role in the immune system's ability to differentiate between "self" and "non-self" cells.

HLA-C antigens are responsible for presenting peptide fragments from inside the cell to CD8+ T cells, also known as cytotoxic T lymphocytes (CTLs). This presentation allows the CTLs to recognize and destroy infected or damaged cells, helping to prevent the spread of viruses and other pathogens.

Like other HLA antigens, HLA-C antigens are highly polymorphic, meaning that there are many different variations of these molecules in the human population. This diversity allows for a better match between an individual's immune system and the pathogens they encounter, increasing the chances of mounting an effective immune response. However, this same diversity can also make it more challenging to find compatible organ donors for transplantation.

H-2 antigens are a group of cell surface proteins found in mice that play a critical role in the immune system. They are similar to the human leukocyte antigen (HLA) complex in humans and are involved in the presentation of peptide antigens to T cells, which is a crucial step in the adaptive immune response.

The H-2 antigens are encoded by a cluster of genes located on chromosome 17 in mice. They are highly polymorphic, meaning that there are many different variations of these proteins circulating in the population. This genetic diversity allows for a wide range of potential peptide antigens to be presented to T cells, thereby enhancing the ability of the immune system to recognize and respond to a variety of pathogens.

The H-2 antigens are divided into two classes based on their function and structure. Class I H-2 antigens are found on almost all nucleated cells and consist of a heavy chain, a light chain, and a peptide fragment. They present endogenous peptides, such as those derived from viruses that infect the cell, to CD8+ T cells.

Class II H-2 antigens, on the other hand, are found primarily on professional antigen-presenting cells, such as dendritic cells and macrophages. They consist of an alpha chain and a beta chain and present exogenous peptides, such as those derived from bacteria that have been engulfed by the cell, to CD4+ T cells.

Overall, H-2 antigens are essential components of the mouse immune system, allowing for the recognition and elimination of pathogens and infected cells.

DNA, or deoxyribonucleic acid, is the genetic material present in the cells of all living organisms, including plants. In plants, DNA is located in the nucleus of a cell, as well as in chloroplasts and mitochondria. Plant DNA contains the instructions for the development, growth, and function of the plant, and is passed down from one generation to the next through the process of reproduction.

The structure of DNA is a double helix, formed by two strands of nucleotides that are linked together by hydrogen bonds. Each nucleotide contains a sugar molecule (deoxyribose), a phosphate group, and a nitrogenous base. There are four types of nitrogenous bases in DNA: adenine (A), guanine (G), cytosine (C), and thymine (T). Adenine pairs with thymine, and guanine pairs with cytosine, forming the rungs of the ladder that make up the double helix.

The genetic information in DNA is encoded in the sequence of these nitrogenous bases. Large sequences of bases form genes, which provide the instructions for the production of proteins. The process of gene expression involves transcribing the DNA sequence into a complementary RNA molecule, which is then translated into a protein.

Plant DNA is similar to animal DNA in many ways, but there are also some differences. For example, plant DNA contains a higher proportion of repetitive sequences and transposable elements, which are mobile genetic elements that can move around the genome and cause mutations. Additionally, plant cells have cell walls and chloroplasts, which are not present in animal cells, and these structures contain their own DNA.

KIR (Killer-cell Immunoglobulin-like Receptors) are a group of receptors found on the surface of natural killer (NK) cells and some T-cells. These receptors play a crucial role in the regulation of the immune system's response to virally infected or cancerous cells.

KIR receptors can be further classified into two main groups: inhibitory receptors and activating receptors. Inhibitory KIR receptors recognize major histocompatibility complex (MHC) class I molecules on the surface of healthy cells, transmitting an inhibitory signal that prevents NK cells from attacking these cells. Activating KIR receptors, on the other hand, recognize viral or stress-induced ligands and transmit an activating signal, leading to the destruction of infected or abnormal cells.

The interaction between KIR receptors and their ligands is critical for maintaining immune tolerance and preventing autoimmune diseases. Variations in KIR genes and their MHC class I ligands can influence susceptibility to various diseases, including viral infections, cancer, and pregnancy-related complications.

Biological evolution is the change in the genetic composition of populations of organisms over time, from one generation to the next. It is a process that results in descendants differing genetically from their ancestors. Biological evolution can be driven by several mechanisms, including natural selection, genetic drift, gene flow, and mutation. These processes can lead to changes in the frequency of alleles (variants of a gene) within populations, resulting in the development of new species and the extinction of others over long periods of time. Biological evolution provides a unifying explanation for the diversity of life on Earth and is supported by extensive evidence from many different fields of science, including genetics, paleontology, comparative anatomy, and biogeography.

Phenylketonurias (PKU) is a genetic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, due to a deficiency of the enzyme phenylalanine hydroxylase. This results in a buildup of phenylalanine in the blood and other tissues, which can cause serious neurological problems if left untreated.

The condition is typically detected through newborn screening and can be managed through a strict diet that limits the intake of phenylalanine. If left untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and other serious health issues. In some cases, medication or a liver transplant may also be necessary to manage the condition.

I'm sorry for any confusion, but "Siberia" is not a medical term. It's a geographical region in Russia, known for its harsh, cold climate and vast wilderness. If you have any questions about medical terms or concepts, I'd be happy to help answer those!

Inheritance patterns refer to the way in which a particular genetic trait or disorder is passed down from one generation to the next, following the rules of Mendelian genetics. There are several different inheritance patterns, including:

1. Autosomal dominant: A single copy of the altered gene in each cell is sufficient to cause the disorder. An affected parent has a 50% chance of passing on the altered gene to each offspring.
2. Autosomal recessive: Two copies of the altered gene in each cell are necessary for the disorder to occur. Both parents must be carriers of the altered gene and have a 25% chance of passing on the altered gene to each offspring, who may then develop the disorder.
3. X-linked dominant: The altered gene is located on the X chromosome, and one copy of the altered gene in each cell is sufficient to cause the disorder. Females are more likely to be affected than males, and an affected female has a 50% chance of passing on the altered gene to each offspring.
4. X-linked recessive: The altered gene is located on the X chromosome, and two copies of the altered gene in each cell are necessary for the disorder to occur. Males are more likely to be affected than females, and an affected male will pass on the altered gene to all of his daughters (who will be carriers) but none of his sons.
5. Mitochondrial inheritance: The altered gene is located in the mitochondria, the energy-producing structures in cells. Both males and females can pass on mitochondrial genetic disorders, but only through the female line because offspring inherit their mother's mitochondria.

Understanding inheritance patterns helps medical professionals predict the likelihood of a genetic disorder occurring in families and provides information about how a disorder may be passed down through generations.

A nuclear family, in medical and social sciences, refers to a family structure consisting of two married parents and their biological or adopted children living together in one household. It's the basic unit of a traditional family structure, typically comprising of a father (male parent), a mother (female parent) and their direct offspring. However, it's important to note that there are many different types of families and none is considered universally superior or normative. The concept of a nuclear family has evolved over time and varies across cultures and societies.

Steroid 21-hydroxylase, also known as CYP21A2, is a crucial enzyme involved in the synthesis of steroid hormones in the adrenal gland. Specifically, it catalyzes the conversion of 17-hydroxyprogesterone to 11-deoxycortisol and progesterone to deoxycorticosterone in the glucocorticoid and mineralocorticoid pathways, respectively.

Deficiency or mutations in this enzyme can lead to a group of genetic disorders called congenital adrenal hyperplasia (CAH), which is characterized by impaired cortisol production and disrupted hormonal balance. Depending on the severity of the deficiency, CAH can result in various symptoms such as ambiguous genitalia, precocious puberty, sexual infantilism, infertility, and increased risk of adrenal crisis.

A Genome-Wide Association Study (GWAS) is an analytical approach used in genetic research to identify associations between genetic variants, typically Single Nucleotide Polymorphisms (SNPs), and specific traits or diseases across the entire genome. This method involves scanning the genomes of many individuals, usually thousands, to find genetic markers that occur more frequently in people with a particular disease or trait than in those without it.

The goal of a GWAS is to identify genetic loci (positions on chromosomes) associated with a trait or disease, which can help researchers understand the underlying genetic architecture and biological mechanisms contributing to the condition. It's important to note that while GWAS can identify associations between genetic variants and traits/diseases, these studies do not necessarily prove causation. Further functional validation studies are often required to confirm the role of identified genetic variants in the development or progression of a trait or disease.

Tandem Repeat Sequences (TRS) in genetics refer to repeating DNA sequences that are arranged directly after each other, hence the term "tandem." These sequences consist of a core repeat unit that is typically 2-6 base pairs long and is repeated multiple times in a head-to-tail fashion. The number of repetitions can vary between individuals and even between different cells within an individual, leading to genetic heterogeneity.

TRS can be classified into several types based on the number of repeat units and their stability. Short Tandem Repeats (STRs), also known as microsatellites, have fewer than 10 repeats, while Minisatellites have 10-60 repeats. Variations in the number of these repeats can lead to genetic instability and are associated with various genetic disorders and diseases, including neurological disorders, cancer, and forensic identification.

It's worth noting that TRS can also occur in protein-coding regions of genes, leading to the production of repetitive amino acid sequences. These can affect protein structure and function, contributing to disease phenotypes.

I'm sorry for any confusion, but "Japan" is not a medical term. Japan is the name of a country, officially known as Nippon-koku or Nihon-koku in Japanese, and is located in East Asia. It is an island nation in the Pacific Ocean with a population of about 126 million people.

If you have any medical questions or terms that you would like me to define, please let me know!

Haploidy is a term used in genetics to describe the condition of having half the normal number of chromosomes in a cell or an organism. In humans, for example, a haploid cell contains 23 chromosomes, whereas a diploid cell has 46 chromosomes.

Haploid cells are typically produced through a process called meiosis, which is a type of cell division that occurs in the reproductive organs of sexually reproducing organisms. During meiosis, a diploid cell undergoes two rounds of division to produce four haploid cells, each containing only one set of chromosomes.

In humans, haploid cells are found in the sperm and egg cells, which fuse together during fertilization to create a diploid zygote with 46 chromosomes. Haploidy is important for maintaining the correct number of chromosomes in future generations and preventing genetic abnormalities that can result from having too many or too few chromosomes.

Histocompatibility testing, also known as tissue typing, is a medical procedure that determines the compatibility of tissues between two individuals, usually a potential donor and a recipient for organ or bone marrow transplantation. The test identifies specific antigens, called human leukocyte antigens (HLAs), found on the surface of most cells in the body. These antigens help the immune system distinguish between "self" and "non-self" cells.

The goal of histocompatibility testing is to find a donor whose HLA markers closely match those of the recipient, reducing the risk of rejection of the transplanted organ or tissue. The test involves taking blood samples from both the donor and the recipient and analyzing them for the presence of specific HLA antigens using various laboratory techniques such as molecular typing or serological testing.

A high degree of histocompatibility between the donor and recipient is crucial to ensure the success of the transplantation procedure, minimize complications, and improve long-term outcomes.

Disease susceptibility, also known as genetic predisposition or genetic susceptibility, refers to the increased likelihood or risk of developing a particular disease due to inheriting specific genetic variations or mutations. These genetic factors can make an individual more vulnerable to certain diseases compared to those who do not have these genetic changes.

It is important to note that having a genetic predisposition does not guarantee that a person will definitely develop the disease. Other factors, such as environmental exposures, lifestyle choices, and additional genetic variations, can influence whether or not the disease will manifest. In some cases, early detection and intervention may help reduce the risk or delay the onset of the disease in individuals with a known genetic susceptibility.

... diversity is a measure of the uniqueness of a particular haplotype in a given population. The haplotype diversity (H ... Haplotype diversity is given for each sample. Haplotype 35 Haplotype estimation International HapMap Project Genealogical DNA ... Given the genotypes for a number of individuals, the haplotypes can be inferred by haplotype resolution or haplotype phasing ... the haplotypes are unambiguous - meaning that there is not any differentiation of haplotype T1T2 vs haplotype T2T1; where T1 ...
... that explain a majority of the common haplotypes in the sequence (or a lower-than-usual number of unique haplotypes). In 2001, ... and which contain only a small number of distinct haplotypes. According to the haplotype-block model, such blocks should show ... In genetics, a haplotype block is a region of an organism's genome in which there is little evidence of a history of genetic ... The boundaries of haplotype blocks cannot be directly observed; they must instead be inferred indirectly through the use of ...
The two most commonly discussed modal haplotypes are the Atlantic Modal Haplotype (the most common haplotype in parts of Europe ... A modal haplotype is an ancestral haplotype derived from the DNA test results of a specific group of people, using genetic ... the haplotype associated with the Jewish Cohanim tradition). However, a specific modal haplotype may be determined for any ... associated with Haplogroup R1b) and the Cohen Modal Haplotype ( ...
In genetics, haplotype estimation (also known as "phasing") refers to the process of statistical estimation of haplotypes from ... List of haplotype estimation and genotype imputation software imputation: predict missing genotypes using known haplotypes ... Approximations to the distribution of a haplotype conditional upon a set of other haplotypes were used for the conditional ... These methods iteratively update the haplotype estimates of each sample conditional upon a subset of K haplotype estimates of ...
In human genetics, Haplotype 35, also called ht35 or the Armenian Modal Haplotype, is a Y chromosome haplotype of Y-STR ... Modal haplotype Haplotype Haplogroup Haplogroup R1b List of Y-STR markers Haplogroup R1b (Haplotype 35) v t e (Articles lacking ... It is characterized by DYS393=12 (as opposed to the Atlantic Modal Haplotype, another R1b haplotype, which is characterized by ... Human Y-DNA modal haplotypes, All stub articles, Genetics stubs). ...
... is the unrelated appearance of identical haplotypes in separate populations, through either convergent ... Haplotype convergence is rare, due to the sheer odds involved of two unrelated individuals independently evolving exactly the ... Thus, haplotypes are shared mainly between very closely related individuals, as the genetic information in two related ... "Common haplotypes". ancestry.com. 14 December 2006. Retrieved 28 March 2012.[better source needed] Blair, C.; Murphy, R. W. ( ...
Modal haplotype Haplotype Haplogroup Haplogroup R1b List of Y-STR markers Some Haplotype Definitions Some Variations of DYS390 ... In human genetics, the Atlantic modal haplotype (AMH) or haplotype 15 is a Y chromosome haplotype of Y-STR microsatellite ... One mutation in either direction, would be AMH 1.15+. The AMH 1.15 set of haplotypes is also referred to as the Atlantic modal ... It corresponds most closely with subclade R1b1a2a1a(1) [L11]. The AMH is the most frequently occurring haplotype amongst human ...
A haplotype map is thus created, not only exhibiting genes the offspring will contain, but also the parental origin of the ... "Developing a Haplotype Map of the Human Genome to Find Genes Related to Health and Disease: Meeting Summary". www.genome.gov. ... Preimplantation genetic haplotyping (PGH) is a clinical method of preimplantation genetic diagnosis (PGD) used to determine the ... Altarescu G, Zeevi DA, Zeligson S, Perlberg S, Eldar-Geva T, Margalioth EJ, Levy-Lahad E, Renbaum P. Familial haplotyping and ...
Whole genome haplotyping is the process of resolving personal haplotypes on a whole genome basis. Current methods of next ... Whole genome direct haplotyping involves the resolution of haplotype at the whole genome level, usually through the isolation ... Most molecular biology techniques for haplotyping can accurately determine haplotypes of only a limited region of the genome. ... Haplotypes have no defined size and can refer to anything from a few closely linked loci up to an entire chromosome. The term ...
In Europe A1-B8 is found, generally as part of the HLA A1-B8-DR3-DQ2 haplotype. This haplotype is 4.7 million nucleotides in ... Underlying this move was the HLA A1-B8-DR3-DQ2 haplotype, a haplotype that is in acute linkage disequilibrium in the European ... A multigene haplotype is set of inherited alleles covering several genes, or gene-alleles; common multigene haplotypes are ... Two-point haplotype analysis between TNFB(B*01 allele) and HLA show that the allele is in linkage disequilibrium with HLA-A1, ...
The analysis of ~12,000 European Haplotypes by AMOVA demonstrates that three larger pools of European haplotypes exist: the ... the generation of reliable frequency estimates for Y-STR haplotypes and Y-SNP haplotypes to be used in the quantitative ... Haplotypes within a haplogroup could be highly similar or even "identical by descent" (IBD). In thus, the haplogroup could be ... The Y Chromosome Haplotype Reference Database (YHRD) is an open-access, annotated collection of population samples typed for Y ...
The CwB haplotype peaks in Sardinia along with the rest of the haplotype and can be found in high resolution studies of the S. ... There are other haplotypes that have similar origins (e.g. A2-Cw7-B58-DR16-DQ5.2) and combined these haplotypes represent ... Long haplotypes, like A30::DQ2, are generally the result of descent by common ancestry. As haplotypes increase in size, ... Excepting A*3002:Cw*0501:B*1801 haplotype, A*3002, the A30 allele found in the A30-Cw5-B18 haplotype, is rare in Europe. ...
This is a list of notable software for haplotype estimation and genotype imputation. Alphabetical order: AlphaImpute Beagle ...
There are many haplotypes of DQ6. DQB1*0601 is generally linked to DQA1*0103 as 6.1 haplotype. This haplotype is more common in ... This haplotype is considered to be the longest multigene haplotype known within the human genome as it covers over 4.7 million ... The DR15-DQ6.2 haplotype is the most common DR-DQ haplotype in Europe, and approximately 30% of Americans carry at least DQ6.2 ... This haplotype is found at its highest Eurasian frequencies in Japan. DQB1*0609 is found in Africa and proximal regions of ...
Michael Hammer (PhD), one of a team of scientists that first published on the Cohen Modal Haplotype in 1997 in the journal ... Their haplotypes matched perfectly. {{cite journal}}: Cite journal requires ,journal= (help) Gibbens, Pam (April 2006). "Talk ... FamilyTreeDNA became widely known for its Y-chromosome STR testing for the Cohen Modal Haplotype. They added an interface by ...
... with Y-STR values clustered unusually closely around a haplotype known as the Cohen Modal Haplotype (CMH). This could be ... Their haplotypes matched perfectly. Lomax, John Nova (14 April 2005). "Who's Your Daddy?". Houston Press. Retrieved 14 June ... "Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood". Human Genetics. 126 (5): 707- ...
Ammar R, Paton TA, Torti D, Shlien A, Bader GD (2015). "CYP2D6 variants and haplotypes". F1000Research. 4: 17. doi:10.12688/ ... haplotyping and other applications. Nanopore sequencing took 25 years to fully materialize. It involved close collaboration ...
Their haplotypes matched perfectly. {{cite journal}}: Cite journal requires ,journal= (help) Lomax, John Nova (April 14, 2005 ... Allele Allele frequency Electropherogram Genetic recombination Haplotype Human mitochondrial DNA haplogroup Human mitochondrial ... "The impact of additional Y-STR loci on resolving common haplotypes and closely related individuals". Forensic Science ...
By comparing the two groups, one determines the likely locations and haplotypes that are involved in the disease. Haplotypes ... A sequence of consecutive alleles on a particular chromosome is known as a haplotype. To find the genetic factors involved in a ... The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to ... Using these, genotype imputation can be used to determine (impute) the other SNPs and thus the entire haplotype with high ...
Moreover, the network analysis of J-P58 haplotypes shows that some of the populations with low diversity, such as Bedouins from ... Jobling, Mark A.; Tyler-Smith, Chris (2000). "New uses for new haplotypes". Trends in Genetics. 16 (8): 356-62. doi:10.1016/ ... Jobling, Mark A.; Tyler-Smith, Chris (2000), "New uses for new haplotypes", Trends in Genetics, 16 (8): 356-62, doi:10.1016/ ... yJdb: the Y-haplogroup J database haplotypes of haplogroup J. [1] Haplogroup J subclades at International Society of Genetic ...
"Haplotyping Takabuti". KNH Centre for Biomedical Egyptology. Retrieved 13 January 2021. Drosou, Konstantina; Collin, Thomas C ... Drosou, Konstantina (2020). "The first reported case of the rare mitochondrial haplotype H4a1 in ancient Egypt". Scientific ... Drosou, Konstantina (2020). "The first reported case of the rare mitochondrial haplotype H4a1 in ancient Egypt". Scientific ... "The first reported case of the rare mitochondrial haplotype H4a1 in ancient Egypt". Scientific Reports. 10 (1): 17037. Bibcode: ...
All Vietnamese carry Southeast Asian haplotypes. The dramatic population decrease experienced by the Cham 700 years ago fits ...
August 2004). "The S haplotype-specific F-box protein gene, SFB, is defective in self-compatible haplotypes of Prunus avium and ... The units are called S-haplotypes. The translation products of the two regions of the S-locus are two proteins which, by ... However, when a female determinant interacts with a male determinant of a different haplotype, no SI is created, and ... "for S-haplotype-specific F-box protein", as explained (parenthetically) in the abstract of], while SI in the other species with ...
Bowling, AT; Scott, AM; Flint, J; Clegg, JB (1988). "Novel alpha haemoglobin haplotypes in horses". Animal Genetics. 19 (2): 87 ...
The most common haplotypes in the !Kung (for example Cw-B) that also appear in Eurasia appear to have been associated with the ... Haplotype diversity of DQB1*0402 appears to be centered around the Amur River/Japanese Island Chain, and diversity of DQB1*0401 ... There are a number of other A-B haplotypes that suggest a connection between the Ainu and the Meso-American and Andean ... The DR*0405 and DR*410 are found specifically associated with these DQ types and there is some haplotype diversity. So that it ...
The Andaman M4 haplotype ... is still present among populations in India, suggesting it was subject to the late Pleistocene ... it is possible that the haplotypes have become extinct in India or are present at a low frequency and have not yet been sampled ... The Andamanese M2 contains two haplotypes ... developed in situ, after an early colonization ... Alternatively, ...
This measure is suitable only for haplotype blocks with limited haplotype diversity and it is not clear how to use it for large ... When a disease is found to be associated with a haplotype, some SNPs in that haplotype will have synthetic association with the ... Therefore, tag SNPs are representative of all SNPs within a haplotype. The selection of tag SNPs is dependent on the haplotypes ... By mapping the entire genome to haplotypes, tag SNPs can be identified to represent the haplotype blocks examined by genetic ...
Lately,[when?] two novel susceptibility haplotypes i.e. P2-S2-X1 and P1-S2-X1 have been discovered in ApoAI-CIII-AIV gene ...
Haplotype diversity is a measure of the uniqueness of a particular haplotype in a given population. The haplotype diversity (H ... Haplotype diversity is given for each sample. Haplotype 35 Haplotype estimation International HapMap Project Genealogical DNA ... Given the genotypes for a number of individuals, the haplotypes can be inferred by haplotype resolution or haplotype phasing ... the haplotypes are unambiguous - meaning that there is not any differentiation of haplotype T1T2 vs haplotype T2T1; where T1 ...
is the (relative) haplotype frequency of each haplotype in the sample and N. {\displaystyle N}. is the sample size. Haplotype ... BiologyPages/H/Haplotypes.html Kimballs Biology Pages (Creative Commons Attribution 3.0) *^ "haplotype / haplotypes , Learn ... Haplotype diversity is a measure of the uniqueness of a particular haplotype in a given population. The haplotype diversity (H ... Given the genotypes for a number of individuals, the haplotypes can be inferred by haplotype resolution or haplotype phasing ...
The UK EQUATOR Centre is hosted by the Centre for Statistics in Medicine (CSM), NDORMS, University of Oxford. The EQUATOR Network website and database is provided by the UK EQUATOR Centre.. ...
We evaluated this direct haplotype-specific approach by determining haplotypes within the intron 2 sequence of the fructan-6- ... Determining haplotype-specific DNA sequence information is very important in a wide range of research fields. However, no ... We have addressed this problem by developing a very simple and robust haplotype-specific sequencing approach. We utilise the ... We conclude that the haplotype-specific sequencing is robust, and that the approach has a potentially very wide application ...
To further explore the haplotype structure at the SNCA locus in these two related disorders, we propose to perform haplotype ... Detailed haplotype maps will be reconstructed for each individual. Relevance to Diagnosis/Treatment of Parkinsons Disease: We ... Firstly, the alleles (either singularly or in the form of a haplotype) associated with PD and MSA may be identical. The second ... Detailed information on genetic variability and the haplotype structure at this crucial risk locus could provide new insights ...
Among the CD-IgA-D group, the B14 allele and A1, B8, Cw7, DR3, DQw2 haplotype were found to confer a high risk of developing ... Human leukocyte antigen alleles and haplotypes associated with selective immunoglobulin A deficiency in Spanish pediatric ... DQw1 haplotypes could be involved with IgA-D susceptibility in RTIAG patients. ... study confirms some of the previous findings in other white populations and describes new possible alleles and haplotypes that ...
However, the functional roles of IL-8 gene haplotypes have not been investigated. Here, we demonstrate for the first time the ... Investigation of the functional role of human Interleukin-8 gene haplotypes by CRISPR/Cas9 mediated genome editing Sci Rep. ... ATC/TTC haplotype cells significantly increased transmigration of neutrophils confirming the functional role for this IL-8 ... However, the functional roles of IL-8 gene haplotypes have not been investigated. Here, we demonstrate for the first time the ...
A reference panel of 64,976 haplotypes for genotype imputation. *Mark. McCarthy, Shane ; Das, Sayantan ; Kretzschmar, Warren ; ... We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from ... article{d9051ca5-69ec-4527-870a-53c06a0c2cc2, abstract = {{,p,We describe a reference panel of 64,976 human haplotypes at ... A reference panel of 64,976 haplotypes for genotype imputation}}, url = {{http://dx.doi.org/10.1038/ng.3643}}, doi = {{10.1038/ ...
... falciparum multidrug resistance gene 1 N86-184F-D1246 haplotype increased significantly between years (P = 0.039). The ... dhfr/dhps resistant haplotypes, after the adoption of sulphadoxine-pyrimethamine as first line treatment in 2002, in southern ... dhfr/dhps resistant haplotypes, after the adoption of sulphadoxine-pyrimethamine as first line treatment in 2002, in southern ... Frequency and prevalence of codon 72-76 haplotypes of the Pfcrt gene in study sites of Mozambique in 2009-2010. ...
... linkage disequilibrium and haplotype construction at multiallelic polymorphism loci, compatible for both diploid and polyploid ... linkage disequilibrium and haplotype construction at multiallelic polymorphism loci, compatible for both diploid and polyploid ... Haplotype analysis In this example, haplotypes with frequency ,0.03 are discarded. 0.03 is the default value. You can change ... Apart from association test for every single haplotype, a global result is also given. This result shows if the haplotype ...
haplotype By Ivan Suarez Robles 07 Feb, 2011 A group of genes that are located close to eachother on the chromosomes, and are ...
Then, click "Search" to find HLA Haplotype frequencies that match your criteria. Remember at least one option must be selected ... HLA > Haplotype Frequency Search Please specify your search by selecting options from boxes. ...
Confirming Statistical Phased Single Nucleotide Polymorphisms (SNPs) Haplotype Data of 74 Microhaplotypes (MH) Across a Global ...
Genotypes and haplotypes of the VEGF gene are associated with higher mortality and lower VEGF plasma levels in patients with ... Genotypes and haplotypes of the VEGF gene are associated with higher mortality and lower VEGF plasma levels in patients with ... Genotypes and haplotypes of the VEGF gene are associated with higher mortality and lower VEGF plasma levels in patients with ...
Then, click "Search" to find HLA Haplotype frequencies that match your criteria. Remember at least one option must be selected ... HLA > Haplotype Frequency Search Please specify your search by selecting options from boxes. ...
Haplotype definitions and unusual haplotypes in BRCA1. Twelve SNPs were used to define haplotypes in BRCA1. The most common non ... The second rare haplotype was identified in five samples and was paired with the consensus haplotype. This haplotype was ... The first haplotype, which was found in nine samples, is similar to the consensus haplotype with the exception of the non- ... We identified 78 (1.3%) samples with non-canonical haplotypes, which in 62 cases were paired with a canonical haplotype. Among ...
Fluidigm2PURC: automated processing and haplotype inference for double-barcoded PCR amplicons. Submitted by Verónica-Di Stilio ... Fluidigm2PURC: automated processing and haplotype inference for double-barcoded PCR amplicons. Publication Type. Journal ... Home » Fluidigm2PURC: automated processing and haplotype inference for double-barcoded PCR amplicons ... our scripts process raw FASTQ files for analysis with PURC and use its output to infer haplotypes for diploids, polyploids, and ...
COLLINS, A (2002) Linkage disequilibrium maps: blocks without haplotyping and application to disease mapping. American ... Linkage disequilibrium maps: blocks without haplotyping and application to disease mapping.. Linkage disequilibrium maps: ...
By coupling haplotype sharing with fine-scale birth records from over 25,000 individuals, we find that while haplotype sharing ... Haplotype sharing provides insights into fine-scale population history and disease in Finland. View ORCID ProfileAlicia R. ... Lastly, we show that haplotype sharing is locally enriched among pairs of individuals sharing rare alleles by an order of ... Haplotype sharing provides insights into fine-scale population history and disease in Finland ...
1. Tim Steiert: Blood group haplotypes and third generation sequencing. 2. Mercy Rophina: Characterization of the genomic ... This can only be achieved with comprehensive and haplotype-resolved data generated by third-generation long read sequencing. We ...
Maximum haplotype diversity in a region showed a better correlation with the number of habitat specialists per steppe type than ... Chloroplast haplotypes featured a complex pattern across the study area. Several species showed a strong geographical ... We also tested for correspondence between the number of habitat specialists and haplotype diversity. Results Climate and ... Evidence from species distribution patterns and chloroplast haplotypes. ...
... haplotype 258/G of 0.37 in CD, 0.39 in UC, and 0.16 in controls; haplotype 262/A of 0.23 in CD, 0.21 in UC, and 0.06 in ... To compare our results to those of Pokorny et al,15 we tested for association of haplotypes defined by D3S1611 and the IVS14 ... Pokorny et al15 first reported a significant association of haplotypes of the MLH1 gene, located on chromosome 3p, with IBD. In ... They found that specific MLH1 haplotypes were associated with the presence and family history of the disease in both CD and UC ...
... and determine genome-wide haplotypes, the copy number of those haplotypes as well as the parental and segregational origin of ... HiVA: an integrative wet- and dry-lab platform for haplotype and copy number analysis of single-cell genomes. View ORCID ... Haplotyping is imperative for comprehensive analysis of genomes, imputation of genetic variants and interpretation of error- ... HiVA: an integrative wet- and dry-lab platform for haplotype and copy number analysis of single-cell genomes ...
A2.10 SLE associated UBE2L3 haplotype modulates plasma cell differentiation via genotypic regulation of NF-κB ... A2.10 SLE associated UBE2L3 haplotype modulates plasma cell differentiation via genotypic regulation of NF-κB ... A2.10 SLE associated UBE2L3 haplotype modulates plasma cell differentiation via genotypic regulation of NF-κB ...
Autism is a developmental condition that may impair social development, communication, and may be accompanied by narrow interests and repetitive activity. Twin and family studies demonstrate a genetic contribution to autistic spectrum disorders (ASDs). Although substantial effort is aimed at identifying these susceptibility genes, there is no unequivocal evidence to implicate a particular gene. This study proposed two novel approaches to investigating possible genetic risk factors. First, ASDs are known to occur in a number of disorders which arise from individuals possessing extra genetic material such as chromosomal duplications. The overgrowth condition known as Beckwith Weidemann syndrome (BWS) can occur in individuals who inherit two copies of a part of chromosome 11 from their father. The researcher had found that a number of these BWS individuals also have autism, suggesting that an autism susceptibility gene may be present on chromosome 11, although may only be expressed when inherited ...
UCSC Genome Browser on mSciVul1.1_alternate_haplotype Nov. 2019 Eurasian red squirrel (alternate hap 2019) (GCA_902685485.1). ...
Haplotype And Functional Analysis Of Four Flavin-Containing Monooxygenase Isoform 2 (FMO2) Polymorphisms In Hispanics.. Title. ... Haplotype And Functional Analysis Of Four Flavin-Containing Monooxygenase Isoform 2 (FMO2) Polymorphisms In Hispanics.. ... Haplotype And Functional Analysis Of Four Flavin-Containing Monooxygenase Isoform 2 (FMO2) Polymorphisms In Hispanics. ...
Starting with the assumption that a single NGS read (or read pair) must come from one haplotype, we built a procedure for ... Thousands of loci were found in each genome where reads spanning 2 or 3 SNPs displayed more than two haplotypes, indicating ... Methods for biomarker discovery must consider contextual haplotype information rather than just whether a variant ... directly observing haplotypes at a local level by examining 2 or 3 adjacent single nucleotide polymorphisms (SNPs) which are ...
Key words: Apis mellifera / Africanized honey bee / Baja California / hybridization / haplotype / morphometrics © INRA, DIB- ... Frequency of European and African-derived morphotypes and haplotypes in colonies of honey bees (Apis mellifera) from NW Mexico ... Morphometrics and haplotype analyses were used to investigate the frequency of African markers in honey bees from Sonora (SON ... The molecular analysis revealed a higher frequency of African-derived haplotypes in SON (48%) and BCN (50%) compared to BCS (21 ...
  • A haplotype (haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. (wikipedia.org)
  • It is thought that identifying these statistical associations and a few alleles of a specific haplotype sequence can facilitate identifying all other such polymorphic sites that are nearby on the chromosome. (wikipedia.org)
  • Firstly, the alleles (either singularly or in the form of a haplotype) associated with PD and MSA may be identical. (michaeljfox.org)
  • The present study confirms some of the previous findings in other white populations and describes new possible alleles and haplotypes that could be implicated with IgA-D susceptibility and resistance. (nih.gov)
  • Our algorithm will be useful for haplotyping of rare alleles and studies of allele-specific somatic aberrations. (nsf.gov)
  • From the individual haplotype block page, you can view all the haplotype (alleles) identified along with the SNP genotypes that constitutes each genotype. (rosaceae.org)
  • Limited recombination in these haplotype blocks keeps adaptive alleles together, and these regions differentiate sunflower ecotypes . (bvsalud.org)
  • To obtain a more complete picture of the PGx alleles present in a diverse US population, approximately 5,000 DNA samples from the population-based NHANES will be tested to determine the PGx allele frequencies of 970 unique haplotypes in 150 pharmacogenes. (cdc.gov)
  • A haplogroup is a group of similar haplotypes that share a common ancestor with a single-nucleotide polymorphism mutation. (wikipedia.org)
  • The haploid genotype (haplotype) is a genotype that considers the singular chromosomes rather than the pairs of chromosomes. (wikipedia.org)
  • An organism's genotype may not define its haplotype uniquely. (wikipedia.org)
  • Two sgRNAs vectors targeting the IL-8 gene and the naked homologous repair DNA carrying different haplotypes were used to successfully generate HEK293T cells carrying the AT genotype at the first SNP - rs4073 (alias -251), TT genotype at the second SNP - rs2227307 (alias +396), TC or CC genotypes at the third SNP - rs2227306 (alias +781) at the IL-8 locus. (nih.gov)
  • Of the few unusual haplotypes not in the canonical set, some are found in a genotype context that is similar to a genotype expected from a combination of a pair of canonical haplotypes, except that one or several polymorphic positions appear, unexpectedly, homozygous. (bmj.com)
  • In the present study, we used unphased genotype data for 12 common biallelic BRCA1 SNPs (located from exons 4 to 16) generated during sequence based clinical mutation testing to obtain BRCA1 SNP haplotypes for 5911 anonymised samples, by applying an expectation maximisation (EM) algorithm similar to those described elsewhere. (bmj.com)
  • Search Haplotype Block is a page where you can search for haplotype blocks, a genomic region which was identified to have a distinct combination of SNP genotype. (rosaceae.org)
  • We performed a candidate gene association study of TRIM22 genotype and haplotypes with markers of disease progression and indicators of advanced disease. (lu.se)
  • TRIM22 genotype and haplotypes were not associated with CD4+ T-cell count, HIV-1 viral load, stunting or chronic diarrhoea. (lu.se)
  • Ding X., Zhang Q., Flury C., Simianer H., Haplotype reconstruction and estimation of haplotype frequencies from nuclear families with only one parent available, Hum. (gse-journal.org)
  • Given the genotypes for a number of individuals, the haplotypes can be inferred by haplotype resolution or haplotype phasing techniques. (wikipedia.org)
  • We evaluated this direct haplotype-specific approach by determining haplotypes within the intron 2 sequence of the fructan-6-fructosyltransferase (6-ft) gene in Lolium perenne L. We obtained reliable haplotype-specific sequences for all primers and genotypes evaluated. (nofima.no)
  • In this approach, unphased SNP genotypes are compared to pairs of canonical haplotypes to identify potentially hemizygous regions. (bmj.com)
  • 3 Interestingly, two BRCA1 haplotypes account for the bulk of the genotypes, the consensus at 59% frequency, and the most common non-consensus haplotype at 21% (fig 1). (bmj.com)
  • Microfluidic whole genome haplotyping is a technique for the physical separation of individual chromosomes from a metaphase cell followed by direct resolution of the haplotype for each allele. (wikipedia.org)
  • We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. (lu.se)
  • Here we present a novel sequencing-based approach for whole-genome SNP typing of single cells, and determine genome-wide haplotypes, the copy number of those haplotypes as well as the parental and segregational origin of chromosomal aberrations from sequencing- and array-based SNP landscapes of single cells. (biorxiv.org)
  • Starting with the assumption that a single NGS read (or read pair) must come from one haplotype, we built a procedure for directly observing haplotypes at a local level by examining 2 or 3 adjacent single nucleotide polymorphisms (SNPs) which are close enough on the genome to be spanned by individual reads. (biomedcentral.com)
  • Thousands of loci were found in each genome where reads spanning 2 or 3 SNPs displayed more than two haplotypes, indicating that the locus is heterogeneous. (biomedcentral.com)
  • Advances in long-read sequencing, alongside genome-wide mapping technologies, have enabled researchers to fully resolve and assemble both haplotypes of a human genome. (frontlinegenomics.com)
  • The sesarch options include species, halotype block name or genome location to which the haplotype block is aligned. (rosaceae.org)
  • Users can limit their results of haplotype blocks by their aligned genome location. (rosaceae.org)
  • 4- 8 An additional 17 samples were excluded from deletion testing because their haplotypes were defined by changes at two, non-adjacent haplotype defining SNPs, which could not be explained by a single deletion event. (bmj.com)
  • If individual reads span both SNPs, then these combinations are directly observable and it is possible to list haplotypes. (biomedcentral.com)
  • How do I infer someone's haplotype of a gene from data on several of the gene's SNPs? (stackexchange.com)
  • For a a few SNPs from given gene, I know there happen to be several haplotypes that most of the population has. (stackexchange.com)
  • Then, click "Search" to find HLA Haplotype frequencies that match your criteria. (allelefrequencies.net)
  • The results of the haplotype distribution and the allele frequencies for each of the factor IX gene polymorphisms in Amerindians were similar to the results reported for Asian populations but differed from results for other ethnic groups. (wayne.edu)
  • globin gene cluster haplotypes but agree with our recent findings on the distribution of a-globin gene cluster haplotypes and the allele frequencies for six VNTRs in the same Amerindian tribes. (wayne.edu)
  • Excoffier L., Slatkin M., Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population, Mol. (gse-journal.org)
  • To further explore the haplotype structure at the SNCA locus in these two related disorders, we propose to perform haplotype fine-mapping using massively parallel sequencing in pathology-proven cases with PD, with MSA or in normal controls. (michaeljfox.org)
  • We use results of this test to perform haplotype assembly across a collection of single cells. (nsf.gov)
  • These methods work by applying the observation that certain haplotypes are common in certain genomic regions. (wikipedia.org)
  • Haplotyping is imperative for comprehensive analysis of genomes, imputation of genetic variants and interpretation of error-prone single-cell genomic data. (biorxiv.org)
  • Our results highlight the need for new methods to analyze genomic variation because existing ones do not systematically consider local haplotypes. (biomedcentral.com)
  • For a given individual, there are nine possible configurations (haplotypes) at these two loci (shown in the Punnett square below). (wikipedia.org)
  • For individuals heterozygous at both loci, the gametic phase is ambiguous - in these cases, you do not know which haplotype you have, e.g. (wikipedia.org)
  • celaoforever/SHEsisPlus: a software package for analysis of genetic association, Hardy-weinberg equilibrium, linkage disequilibrium and haplotype construction at multiallelic polymorphism loci, compatible for both diploid and polyploid species. (github.com)
  • These unusual haplotypes could represent hemizygous loci resulting from intragenic deletions. (bmj.com)
  • Within the remaining samples, 42 contained rare haplotypes that appeared to arise from changes in one out of five SNP loci in exon 11, potentially indicative of a partial deletion of the exon. (bmj.com)
  • Massive haplotypes underlie ecotypic differentiation in sunflowers. (bvsalud.org)
  • This discovery increased the likelihood that the unusual haplotype in this sample, and perhaps others in this group, were the result of intragenic deletions, and not just recombination. (bmj.com)
  • We conclude that the haplotype-specific sequencing is robust, and that the approach has a potentially very wide application range for any diploid organism. (nofima.no)
  • In order to examine whether or not artificial barriers such as roads, dams, and golf courses affect the spatial heterogeneity of mtDNA haplotypes, we implemented two exclusive spatial analyses (SAMOVA and network analysis based on Monmonier's algorithm) for searching genetic discontinuities between artificial barriers. (go.jp)
  • This study investigates the potential to solve this constraint by massively parallel sequencing a large number of mitogenomes that share the most common West Eurasian mtDNA control region (CR) haplotype motif (263G 315.1C 16519C). (hud.ac.uk)
  • In combination with the program PURC (Pipeline for Untangling Reticulate Complexes), our scripts process raw FASTQ files for analysis with PURC and use its output to infer haplotypes for diploids, polyploids, and samples with unknown ploidy. (washington.edu)
  • Linkage disequilibrium maps: 'blocks' without haplotyping and application to disease mapping. (soton.ac.uk)
  • Despite these findings, SP remains a explored emerging lineages of dhps mutant haplotypes in Malawi,theDemocraticRepublicoftheCongo,andTanza- major tool for malaria control when administered as a partner niabyusinganalysesofgeneticmicrosatellitesflankingthe drug with artemisinins and as intermittent preventive therapy dhps locus. (cdc.gov)
  • We plan to investigate whether the haplotype structure at the SNCA locus allows us to differentiate individuals with multiple system atrophy from individuals with Parkinson's disease and from normal controls. (michaeljfox.org)
  • Detailed information on genetic variability and the haplotype structure at this crucial risk locus could provide new insights into the pathogenesis of PD and MSA. (michaeljfox.org)
  • Most of the human SNP diversity at a given locus may be described as a set of "canonical" haplotypes, representing common haplotypes in a population. (bmj.com)
  • Haplotype-specific expression of the N-terminal exons 2 and 3 at the human MAPT locus. (ox.ac.uk)
  • For example, haplotype blocks control a 77-day difference in flowering between ecotypes of the silverleaf sunflower H. argophyllus (probably through deletion of a homologue of FLOWERING LOCUS T (FT)), and are associated with seed size, flowering time and soil fertility in dune -adapted sunflowers . (bvsalud.org)
  • For genetic analysis, we sampled three or four habitat specialists of each steppe type and used cpDNA markers to investigate intraspecific diversity and geographical distribution of haplotypes. (muni.cz)
  • Researchers have assembled 64 haplotypes from 32 diverse human genomes in order to serve as a new reference for genetic variation and predisposition to human diseases. (frontlinegenomics.com)
  • The functional biological mechanisms behind the genetic association have started to emerge with differences recently shown in haplotype splicing of the neuropathologically relevant exon 10. (ox.ac.uk)
  • Narcolepsy is strongly associated with specific human leukocyte antigen (HLA) haplotypes, but the cause is not thought to be genetic. (msdmanuals.com)
  • I am performing a haplotype and nucleotide diversity analysis of my Sanger sequences (from Watermelon mosaic virus coat protein region) using the Arlequin program. (stackexchange.com)
  • We have addressed this problem by developing a very simple and robust haplotype-specific sequencing approach. (nofima.no)
  • This can only be achieved with comprehensive and haplotype-resolved data generated by third-generation long read sequencing. (isbtweb.org)
  • We introduce the technique of Local Haplotyping Analysis (LHA) which shows that evidence for heterogeneity is strong and directly observable in Next Generation Sequencing (NGS) data. (biomedcentral.com)
  • Complete mitogenome sequencing allowed for the detection of 163 distinct haplotypes, raising the power of discrimination from 0 (CR) to 99.6% (mitogenome). (hud.ac.uk)
  • The microtubule-associated protein tau (MAPT) H1 haplotype shows a strong association to the sporadic neurodegenerative diseases, progressive supranuclear palsy and corticobasal degeneration. (ox.ac.uk)
  • Here we investigate the hypothesis that expression of the alternatively spliced N-terminal exons also differs between the two MAPT haplotypes. (ox.ac.uk)
  • In both cell culture and post-mortem brain tissue, we show that the protective MAPT H2 haplotype significantly expresses two-fold more 2N (exons 2+3+) MAPT transcripts than the disease-associated H1 haplotype. (ox.ac.uk)
  • The term 'haplogroup' refers to the SNP/unique-event polymorphism (UEP) mutations that represent the clade to which a collection of particular human haplotypes belong. (wikipedia.org)
  • 이와 관련해 인간 유전체의 haplotype을 분석하여 haplogroup map를 만들기 위한 HapMap Project 가 추진되었다. (incodom.kr)
  • When stimulated with Poly I:C, ATC/TTC haplotype, cells significantly up-regulated the IL-8 at both transcriptional and translational levels. (nih.gov)
  • ATC/TTC haplotype cells significantly increased transmigration of neutrophils confirming the functional role for this IL-8 haplotype. (nih.gov)
  • Only five haplotypes were identified within the entire Amerindian study population, and the haplotype distribution was significantly different among the five tribes, with one (Arara) to four (Wayampf) haplotypes being found per tribe. (wayne.edu)
  • Among subjects of all racial ancestries enrolled in HIGS who reported early use of recombinant products (N = 223), mismatch in endogenous haplotype and the FVIII proteins constituting the products used did not confer greater risk for inhibitor development. (lu.se)
  • This group was selected for molecular analysis because of its abundance, representing 18% of the unusual haplotypes. (bmj.com)
  • Haplotype And Functional Analysis Of Four Flavin-Containing Monooxygenase Isoform 2 (FMO2) Polymorphisms In Hispanics. (oregonstate.edu)
  • Analysis of molecular variance (AMOVA) detected significant spatial heterogeneity in the constitution of the haplotypes among the blocks. (go.jp)
  • median sCD14) had on average 6.94 lower % predicted FEV1 than individuals with the GCCA haplotype and low sCD14 levels (≤ median sCD14, padj = 0.03). (cdc.gov)
  • This specifically corresponded to 70 haplotypes (64 unrelated and 6 children) from a diverse panel of human genomes. (frontlinegenomics.com)
  • The high number of matching haplotypes of the most common mitochondrial (mt)DNA lineages are considered to be the greatest limitation for forensic applications. (hud.ac.uk)
  • We show that amplification biases have a potential upside: long-range correlations in rates of allele dropout provide a signal for phasing haplotypes at the lengths of amplicons from WGA, lengths which are generally longer than than individual sequence reads. (nsf.gov)
  • An expectation maximisation based prediction algorithm was created to identify unusual haplotypes in patient samples that may be caused by small intragenic deletions. (bmj.com)
  • The second outcome is that there are distinct variations in the haplotypes associated with PD and with MSA. (michaeljfox.org)
  • Morphometrics and haplotype analyses were used to investigate the frequency of African markers in honey bees from Sonora (SON), the north and south of Baja California (BCN and BCS). (apidologie.org)
  • Among the CD-IgA-D group, the B14 allele and A1, B8, Cw7, DR3, DQw2 haplotype were found to confer a high risk of developing IgA-D. A possible protective role may be postulated for DR2 and DR4 in both types of IgA-D patients. (nih.gov)
  • Among these samples, 14 were identified with rare haplotypes created by a change at the SNP in exon 16 (fig 1), suggestive of a possible deletion of this exon. (bmj.com)
  • These findings suggest that roads could be one of major barriers to hamper migration of sika deer to some extent, but other potential factors such as the location of food resources and/or the history of bottleneck event are also likely to more or less contribute to configure the present patterns of haplotype distribution. (go.jp)
  • Taken together, our data provides evidence that carriage of the ATC/TTC haplotype in itself may increase the influx of neutrophils in inflammatory lesions and influence disease susceptibility. (nih.gov)
  • Data from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort were used to determine the association between F8 haplotype 3 (H3) vs. haplotypes 1 and 2 (H1 + H2) and inhibitor risk among individuals of genetically determined African descent. (lu.se)
  • Given SNP-Chip data for a population, what tool should I use to reconstruct haplotypes? (stackexchange.com)
  • I think Eagle or haploSep will do the job of reconstructing haplotype data, but I'm not sure what the 'standard' or best practice tool to use is. (stackexchange.com)
  • However, it is possible to estimate the probability of a particular haplotype when phase is ambiguous using a sample of individuals. (wikipedia.org)
  • Conclusion: CD14 haplotypes and sCD14 are important mediators of lung function among those with COPD in this occupationally-exposed population. (cdc.gov)
  • Here, by resequencing 1,506 wild sunflowers from 3 species ( Helianthus annuus , Helianthus petiolaris and Helianthus argophyllus), we identify 37 large (1-100 Mbp in size), non-recombining haplotype blocks that are associated with numerous ecologically relevant traits, as well as soil and climate characteristics. (bvsalud.org)
  • They found that specific MLH1 haplotypes were associated with the presence and family history of the disease in both CD and UC. (bmj.com)
  • A total of four haplotypes was found. (go.jp)
  • Users can search by haplotype block name for an exact match, contains, starts with or ends with the input, by selecting the desired option from the drop-down menu. (rosaceae.org)
  • Instead, we examine all possible haplotypes with the explicit aim of evaluating evidence for heterogeneity in the tissue. (biomedcentral.com)
  • Named variants to Rsids or coordinates or Haplotype? (biostars.org)
  • These haplotypes are highly divergent, frequently associated with structural variants and often appear to represent introgressions from other-possibly now-extinct-congeners. (bvsalud.org)
  • Haplotype 3 was associated with higher inhibitor risk among those genetically identified (N = 49) as of African ancestry, but the association did not remain significant after adjustment for F8 mutation type and the HLA variables. (lu.se)
  • Determining haplotype-specific DNA sequence information is very important in a wide range of research fields. (nofima.no)
  • However, no simple and robust approaches are currently available for determining haplotype-specific sequence information. (nofima.no)
  • Ancestral background, specifically African descent, confers higher risk for development of inhibitory antibodies to factor VIII (FVIII) in haemophilia A. It has been suggested that differences in the distribution of FVIII gene (F8) haplotypes, and mismatch between endogenous F8 haplotypes and those comprising products used for treatment could contribute to risk. (lu.se)
  • Chloroplast haplotypes featured a complex pattern across the study area. (muni.cz)
  • We augmented a pilot study on 29 to a total of 216 Italian mitogenomes that represents the largest set of the most common CR haplotype compiled from a single country. (hud.ac.uk)
  • Clade here refers to a set of haplotypes sharing a common ancestor. (wikipedia.org)
  • However, these could also be bona fide haplotypes that are too rare to be represented in the canonical set, resulting from recombinations between common haplotypes, or single base changes. (bmj.com)