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.
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.
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)
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.
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).
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)

Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.

The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.

Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.

Examples of diseases with a known genetic predisposition:

1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.

Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."


Symptoms of type 1 diabetes can include increased thirst and urination, blurred vision, fatigue, weight loss, and skin infections. If left untreated, type 1 diabetes can lead to serious complications such as kidney damage, nerve damage, and blindness.

Type 1 diabetes is diagnosed through a combination of physical examination, medical history, and laboratory tests such as blood glucose measurements and autoantibody tests. Treatment typically involves insulin therapy, which can be administered via injections or an insulin pump, as well as regular monitoring of blood glucose levels and appropriate lifestyle modifications such as a healthy diet and regular exercise.

There are several types of PKU, including classic PKU, mild PKU, and hyperphenylalaninemia (HPA). Classic PKU is the most severe form of the disorder and is characterized by a complete deficiency of the enzyme phenylalanine hydroxylase (PAH), which is necessary for the breakdown of Phe. Mild PKU is characterized by a partial deficiency of PAH, while HPA is caused by a variety of other genetic defects that affect the breakdown of Phe.

Symptoms of PKU can vary depending on the severity of the disorder, but may include developmental delays, intellectual disability, seizures, and behavioral problems. If left untreated, PKU can lead to serious health complications such as brain damage, seizures, and even death.

The primary treatment for PKU is a strict diet that limits the intake of Phe. This typically involves avoiding foods that are high in Phe, such as meat, fish, eggs, and dairy products, and consuming specialized medical foods that are low in Phe. In some cases, medication may also be prescribed to help manage symptoms.

PKU is an autosomal recessive disorder, which means that it is inherited in an unusual way. Both parents must carry the genetic mutation that causes PKU, and each child has a 25% chance of inheriting the disorder. PKU can be diagnosed through newborn screening, which is typically performed soon after birth. Early diagnosis and treatment can help prevent or minimize the symptoms of PKU and improve quality of life for individuals with the disorder.

There are several types of disease susceptibility, including:

1. Genetic predisposition: This refers to the inherent tendency of an individual to develop a particular disease due to their genetic makeup. For example, some families may have a higher risk of developing certain diseases such as cancer or heart disease due to inherited genetic mutations.
2. Environmental susceptibility: This refers to the increased risk of developing a disease due to exposure to environmental factors such as pollutants, toxins, or infectious agents. For example, someone who lives in an area with high levels of air pollution may be more susceptible to developing respiratory problems.
3. Lifestyle susceptibility: This refers to the increased risk of developing a disease due to unhealthy lifestyle choices such as smoking, lack of exercise, or poor diet. For example, someone who smokes and is overweight may be more susceptible to developing heart disease or lung cancer.
4. Immune system susceptibility: This refers to the increased risk of developing a disease due to an impaired immune system. For example, people with autoimmune disorders such as HIV/AIDS or rheumatoid arthritis may be more susceptible to opportunistic infections.

Understanding disease susceptibility can help healthcare providers identify individuals who are at risk of developing certain diseases and provide preventive measures or early intervention to reduce the risk of disease progression. Additionally, genetic testing can help identify individuals with a high risk of developing certain diseases, allowing for earlier diagnosis and treatment.

In summary, disease susceptibility refers to the predisposition of an individual to develop a particular disease or condition due to various factors such as genetics, environment, lifestyle choices, and immune system function. Understanding disease susceptibility can help healthcare providers identify individuals at risk and provide appropriate preventive measures or early intervention to reduce the risk of disease progression.

... haplotype estimation and haplotype tagging (Homepage). HelixTree - Haplotype analysis software - Haplotype Trend Regression ( ... 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 ...
... 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) (Articles lacking ... It is characterized by DYS393=12 (as opposed to the Atlantic Modal Haplotype, another R1b haplotype, which is characterized by ... DYS393=13). The members of this haplotype are found in high numbers in Anatolia and Armenia, with smaller numbers throughout ...
... 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, ...
... among them 290.147 17-STR locus haplotypes, 103.631 23-STR locus haplotypes, 106.025 27-STR locus haplotypes and 31.377 Y SNP ... 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 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. Soon, they were offering not ...
... with Y-STR values clustered unusually closely around a haplotype known as the Cohen Modal Haplotype (CMH). This could be ... Their haplotypes matched perfectly. {{cite journal}}: Cite journal requires ,journal= (help) Lomax, John Nova (14 April 2005 ... "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 ...
2001, see Modal Haplotypes of "J1" (as Eu10) Sanchez, Juan J; Hallenberg, Charlotte; Børsting, Claus; Hernandez, Alexis; Gorlin ... 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/ ... 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 2021-01-13. Drosou, Konstantina; Collin, Thomas C.; ... Freeman, Peter J.; Loynes, Robert; Freemont, Tony (2020-10-12). "The first reported case of the rare mitochondrial haplotype ...
All Vietnamese carry Southeast Asian haplotypes. The dramatic population decrease experienced by the Cham 700 years ago fits ...
"The S haplotype-specific F-box protein gene, SFB, is defective in self-compatible haplotypes of Prunus avium and P. mume". ... 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 ... There are possibly up to 100 polymorphs of the S-haplotype in Brassica, and within these there is a dominance hierarchy. The ...
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 ...
Since the associated HLA-DRB1*1501-DQB1*0602 haplotype is common in the general population (15-25%), it has been suggested that ... Cases almost never carried a trans DRB1*1301-DQB1*0603 haplotype (odds ratio = 0.02; P < 6 × 10−14). This unexpected ... protective HLA haplotype suggests a virtually causal involvement of the HLA region in narcolepsy susceptibility. ... Mehdi Tafti and colleagues identify new HLA class II haplotypes that are strongly protective against narcolepsy. Their analyses ...
Such situations arise when transmission of a multilocus marker haplotype is considered, since haplotype phase is often unknown ... Such situations arise when transmission of a multilocus marker haplotype is considered, since haplotype phase is often unknown ... A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission Am J Hum Genet. 1999 Oct;65(4): ...
We refer to the concatenated haplotype blocks as the "scaffold haplotype.". After generating the scaffold haplotype, we then ... to either parental haplotype (A or B). We used the linkage to scaffold haplotypes to assign the haplotype phase at each variant ... into two types of haplotype linkage Moreover, a molecular link (σi,σ j) between sites i and j is consistent with haplotype ... is the mean haplotype fraction (A or B) across all variants within the ith bin. We then calculated haplotype DNA copy number by ...
261-24990-Haplotype Block Parition and its applications to association studies-Fengzhu Sun H.264 Video. 261-24990-Haplotype_ ... Home » Workshop » Schedules » Haplotype Block Parition and its applications to association studies. Haplotype Block Parition ... 261-24990-Haplotype_Block_Parition_and_its_applications_to_association_studies-Fengzhu_Sun.rm 9.19 MB application/vnd.rn- ... 261-24990-Haplotype Block Parition and its applications to association studies-Fengzhu Sun. ...
An association between the P7-CDH1 haplotype, including two polymorphisms (rs16260A-rs1801552T) and a subset of HER2-positive ... Results indicated the potential evaluation of CDH1 haplotypes in mGC to stratify patients that will benefit from trastuzumab- ... haplotype and haplotype P1 were also associated with poorer prognosis in mGC group when compared to haplotype P3 (HR 1.412, 95 ... Haplotype P7 was exclusively present in six mGC-HER2 patients, one of them showing a P7 haplotype in homozygous cases (Table 4 ...
Studyof Allogeneic Hematopoietic Stem Cell Transplantation From One Haplotype Mismatch Related Donor or From an Unrelated Donor ...
UCSC Genome Browser on fTakRub1.2_alternate_haplotype Jun. 2019 torafugu (alternate hap 2019) (GCA_901000745.3). move <<< ...
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. ...
UCSC Genome Browser on bHarHar1_primary_haplotype Nov. 2022 Harpy eagle (bHarHar1 primary hap 2022) (GCF_026419915.1). move ...
We compared the growth, salt tolerance, and osmotic adjustment of M haplotype P. australis and S. alterniflora along a salinity ... the M haplotype, has been implicated in the spread of this species into North American salt marshes that are normally dominated ... We compared the growth, salt tolerance, and osmotic adjustment of M haplotype P. australis and S. alterniflora along a salinity ... An invasive variety of Phragmites australis (Poaceae, common reed), the M haplotype, has been implicated in the spread of this ...
Angiotensinogen, Coronary heart disease, Familial hypercholesterolemia, Haplotype, Polymorphism Persistent URL doi.org/10.1097/ ... Haplotype H3, consisting of the minor allele of the 4072T,C polymorphism and the major alleles of the other polymorphisms, had ... Haplotype of the angiotensinogen gene is associated with coronary heart disease in familial hypercholesterolemia. Publication. ... The five haplotypes cover approximately 98% of the genetic diversity accounted for by these four polymorphisms. The ...
... haplotype and higher resolution mapping of the TFA loci ... haplotype and higher resolution mapping of the TFA loci. Title ... Selection of transformation efficient barley genotypes based on TFA (transformation amenability) haplotype and higher ... Selection of transformation efficient barley genotypes based on TFA (transformation amenability) haplotype and higher ...
... consistent with haplotype findings in humans. To determine whether baboons, like humans, also have particular haplotypes ... Haplotypes in the APOA1-C3-A4-A5 gene cluster affect plasma lipids in both humans and baboons. Published in:. Human Molecular ... Haplotypes in the APOA1-C3-A4-A5 gene cluster affect plasma lipids in both humans and baboons ... Genetic analysis of single SNPs, as well as haplotypes, revealed an association of APOA5 and APOC3 variants with HDL- ...
... rich haplotype in intron 4 of SNCA confers risk for Lewy body pathology in Alzheimers disease and affects SNCA expression. ... We showed that a specific haplotype conferred risk to develop LBV/AD. We demonstrated that the CT-rich site acts as an enhancer ... DISCUSSION: We have discovered a novel haplotype in a CT-rich region in SNCA that contributes to LB pathology in AD patients, ... A cytosine-thymine (CT)-rich haplotype in intron 4 of SNCA confers risk for Lewy body pathology in Alzheimers disease and ...
HairSplitter: assembling long reads in an unknown number of haplotypes. SeqBIM 2022 - Journées sur les Séquences en ...
Each haplotype is then assembled independently using a new module of the Canu assembler the NHGRI team created - TrioCanu - ... New cattle genome overcomes challenges of haplotype assembly Genetic knowledge is powerful when it comes to breeding. The ... These k-mers are presumed to be specific to the corresponding haplotypes of the offspring. Next, long reads are collected from ... In the case of the cattle, the Angus and Brahman haplotypes aligned to one another with 99.35% identity and contained 25,245 ...
Echinococcus Granulosus Haplotypes in the Scientific Literature. Echinococcus Granulosus Haplotypes in the Scientific ...
Using a two-loci-two-allele model, we demonstrate that combining markers in linkage equilibrium into haplotypes always leads to ... Using GIA as a criterion for combining markers into haplotypes, we demonstrate for simulated data a significant improvement of ... For the many cases that we investigate, incorrect assignment was reduced between 26% and 97% using haplotype data. For ... using haplotypes. Our results can be useful for challenging population structure and assignment problems, in particular for ...
Absence of association between asthma and high serum immunoglobulin E associated GPRA haplotypes and adult atopic dermatitis. ... Absence of association between asthma and high serum immunoglobulin E associated GPRA haplotypes and adult atopic dermatitis. ... Humans, Asthma, Dermatitis, Atopic, Immunoglobulin E, Receptors, G-Protein-Coupled, Haplotypes, Adult ...
Oak chloroplast DNA haplotypes in the UKResource locator. Youre previewing the first 4 rows of this file. ...
Platinum-Quality Mitogenome Haplotypes from United States Populations Date Published. 2020 Agencies ...
Haplotype analysis of the TPH gene and association with suicidal behaviour in Russian males and females. Access & Citations. * ...
We found a highly significant association between schizophrenia and a COMT haplotype (P=9.5x10-8). The approach presented can ... A highly significant association between a COMT haplotype and schizophrenia.. Sagiv Shifman, Michal Bronstein, Meira Sternfeld ... followed by individual genotyping and haplotype analysis of the relevant SNPs. ...
... particularly haplotypes, may affect IL-6 expression. We examined the contribution of haplotypes in the IL-6 gene on sustained ... particularly haplotypes, may affect IL-6 expression. We examined the contribution of haplotypes in the IL-6 gene on sustained ... particularly haplotypes, may affect IL-6 expression. We examined the contribution of haplotypes in the IL-6 gene on sustained ... particularly haplotypes, may affect IL-6 expression. We examined the contribution of haplotypes in the IL-6 gene on sustained ...
HLA Antigen And Haplotype Frequencies In Bhargavas And Chaturvedies Of UP (India). Indian Journal of Human Genetics. 1999 Jan; ... HLA Antigen And Haplotype Frequencies In Bhargavas And Chaturvedies Of UP (India).. ... subgroups of the major ethnic group of Brahmins were typed for HLA antigen and haplotype frequencies. Gene pools of these two ...
Haplotype analysis of Viviparous-1 gene in CIMMYT elite bread wheat germplasm. / Sun, Y. W.; Jones, H. D.; Yang, Y. et al. ... Sun, Y. W., Jones, H. D., Yang, Y., Dreisigacker, S., Li, S. M., Chen, X. M., Shewry, P. R., & Xia, L. Q. (2012). Haplotype ... Haplotype analysis of Viviparous-1 gene in CIMMYT elite bread wheat germplasm. In: Euphytica. 2012 ; Vol. 186, No. 1. pp. 25-43 ... Haplotype analysis of Viviparous-1 gene in CIMMYT elite bread wheat germplasm. Euphytica. 2012 Jul;186(1):25-43. doi: 10.1007/ ...
  • METHODS: In a cohort of 1785 familial hypercholesterolemia patients, we reconstructed five frequent haplotypes of the angiotensinogen gene, based on four polymorphisms. (eur.nl)
  • DISCUSSION: We have discovered a novel haplotype in a CT-rich region in SNCA that contributes to LB pathology in AD patients, possibly via cis-regulation of the gene expression. (duke.edu)
  • We examined the contribution of haplotypes in the IL-6 gene on sustained viral response (SVR) to the therapy for chronic HCV infection. (johnshopkins.edu)
  • Haplotypes of the Alpha-Globin Gene Regulatory Element in two Brazilian Native Populations. (bvsalud.org)
  • Determining the haplotype phase requires knowledge of both the genotypes at variant sites and their linkage across each chromosome. (biorxiv.org)
  • Haplotype phase ("haploid genotype") is the combination of genotypes at sites of genetic variation along a chromosome ( The International HapMap Consortium, 2005 ). (biorxiv.org)
  • This study examined associations between HLA genotypes, haplotypes, and homozygosity and protective antigen (PA)-specific cellular immune responses in healthy subjects following immunization with Anthrax Vaccine Adsorbed (AVA). (cdc.gov)
  • Then, click "Search" to find HLA Haplotype frequencies that match your criteria. (allelefrequencies.net)
  • IMSEAR at SEARO: HLA Antigen And Haplotype Frequencies In Bhargavas And Chaturvedies Of UP (India). (who.int)
  • Bhargavas and Chaturvedies, subgroups of the major ethnic group of Brahmins were typed for HLA antigen and haplotype frequencies. (who.int)
  • 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)
  • C polymorphism and the major alleles of the other polymorphisms, had a frequency of 15% and was associated with a 45% increased coronary heart disease risk (P = 0.006) compared to the wild-type haplotype H1. (eur.nl)
  • We introduce a statistic derived from information theory, the gain of informativeness for assignment (GIA), which quantifies the additional information for assigning individuals to populations using haplotype data compared to using individual loci separately. (scilifelab.se)
  • Using GIA as a criterion for combining markers into haplotypes, we demonstrate for simulated data a significant improvement of assigning individuals to candidate populations. (scilifelab.se)
  • To utilize such data for population structure inference, we investigate the use of haplotypes constructed by combining the alleles at single-nucleotide polymorphisms (SNPs). (scilifelab.se)
  • and (iii) a stepwise procedure in which several single nucleotide polymorphisms (SNPs) are scanned in DNA pools, followed by individual genotyping and haplotype analysis of the relevant SNPs. (qxmd.com)
  • While limited associations were observed between individual HLA alleles or haplotypes and variable lymphocyte proliferative (LP) responses to AVA, analyses of homozygosity supported the hypothesis of a "heterozygote advantage. (cdc.gov)
  • Haplotype phase represents the collective genetic variation between homologous chromosomes and is an essential feature of non-haploid genomes. (biorxiv.org)
  • Interleukin-6 (IL-6) is an important cytokine involved in the immune response to infectious agents and in vitro studies suggest that host genetic variation, particularly haplotypes, may affect IL-6 expression. (johnshopkins.edu)
  • Haplotype linkage can be either inferred statistically from a genotyped population, or determined by long-range sequencing of an individual genome. (biorxiv.org)
  • Using a two-loci-two-allele model, we demonstrate that combining markers in linkage equilibrium into haplotypes always leads to nonpositive GIA, suggesting that combining the two markers is not advantageous for ancestry inference. (scilifelab.se)
  • However, extending haplotype inference to the whole-chromosome scale remains challenging and usually requires special experimental techniques. (biorxiv.org)
  • Combining markers into haplotypes can improve population structure inference. (scilifelab.se)
  • It uses short reads from two parental genomes to partition SMRT Sequencing long reads from an offspring into haplotype-specific sets prior to assembly. (pacb.com)
  • Next, long reads are collected from an offspring of the parents to sufficiently cover both haplotypes (e.g. 80-fold PacBio, 40-fold per haplotype). (pacb.com)
  • Long reads from the offspring are then binned into paternal and maternal groups based on the presence of the haplotype-specific k-mers and assembled separately. (pacb.com)
  • In contrast, our long-read method enables the assembly of multi-megabase haplotigs and complete parental haplotypes," the authors write. (pacb.com)
  • However, for loci in LD, GIA is often positive, suggesting that assignment can be improved by combining markers into haplotypes. (scilifelab.se)
  • Such situations arise when transmission of a multilocus marker haplotype is considered, since haplotype phase is often unknown in a substantial number of instances. (nih.gov)
  • This unexpected protective HLA haplotype suggests a virtually causal involvement of the HLA region in narcolepsy susceptibility. (nature.com)
  • The final model included the variables sCD14 and haplotypes and a haplotype x sCD14 interaction term. (cdc.gov)
  • An invasive variety of Phragmites australis (Poaceae, common reed), the M haplotype, has been implicated in the spread of this species into North American salt marshes that are normally dominated by the salt marsh grass Spartina alterniflora (Poaceae, smooth cordgrass). (usgs.gov)
  • A coordinated international effort to identify and catalog patterns of linked variations (HAPLOTYPES) found in the human genome across the entire human population. (bvsalud.org)
  • The map of human HAPLOTYPES. (bvsalud.org)
  • Initial results show that Iso-Seq data can be haplotyped and is highly concordant with genome phasing results, revealing possible allelic-specific isoform expression," he added. (pacb.com)
  • For the many cases that we investigate, incorrect assignment was reduced between 26% and 97% using haplotype data. (scilifelab.se)
  • For empirical data from French and German individuals, the incorrectly assigned individuals can, for example, be decreased by 73% using haplotypes. (scilifelab.se)
  • RESULTS: We identified four distinct haplotypes within a highly polymorphic low-complexity cytosine-thymine (CT)-rich region. (duke.edu)
  • 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)
  • One such tool is the Haplotype Map. (who.int)
  • A highly significant association between a COMT haplotype and schizophrenia. (qxmd.com)
  • We found a highly significant association between schizophrenia and a COMT haplotype (P=9.5x10-8). (qxmd.com)
  • Here we describe a general computational strategy to determine complete chromosomal haplotypes using a combination of bulk long-range sequencing and Hi-C sequencing. (biorxiv.org)
  • The five haplotypes cover approximately 98% of the genetic diversity accounted for by these four polymorphisms. (eur.nl)
  • Absence of association between asthma and high serum immunoglobulin E associated GPRA haplotypes and adult atopic dermatitis. (ox.ac.uk)
  • Each haplotype is then assembled independently using a new module of the Canu assembler the NHGRI team created - TrioCanu - resulting in a complete diploid reconstruction. (pacb.com)
  • We showed that a specific haplotype conferred risk to develop LBV/AD. (duke.edu)
  • These k-mers are presumed to be specific to the corresponding haplotypes of the offspring. (pacb.com)
  • In the case of the cattle, the Angus and Brahman haplotypes aligned to one another with 99.35% identity and contained 25,245 haplotype-specific structural variants and 124 inversion breakpoints. (pacb.com)
  • But reliance on short-read sequencing limited the haplotype-specific contigs (haplotigs) to an average size of a few kilobases. (pacb.com)
  • 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)
  • Since the associated HLA - DRB1*1501-DQB1*0602 haplotype is common in the general population (15-25%), it has been suggested that it is almost necessary but not sufficient for developing narcolepsy. (nature.com)
  • A cytosine-thymine (CT)-rich haplotype in intron 4 of SNCA confers risk for Lewy body pathology in Alzheimer's disease and affects SNCA expression. (duke.edu)
  • We demonstrated that the CT-rich site acts as an enhancer element, where the risk haplotype was significantly associated with elevated levels of SNCA messenger RNA. (duke.edu)
  • The associations between the haplotypes and coronary heart disease were analyzed with the haplo.stats program, adjusted for age, sex and smoking. (eur.nl)