Haplotypes
Polymorphism, Single Nucleotide
Linkage Disequilibrium
Gene Frequency
Alleles
Polymorphism, Genetic
Genotype
Genetic Predisposition to Disease
Genetics, Population
DNA, Mitochondrial
Genetic Markers
Sequence Analysis, DNA
Founder Effect
Case-Control Studies
HLA-DQ Antigens
Microsatellite Repeats
Chromosome Mapping
Genetic Linkage
Polymorphism, Restriction Fragment Length
Molecular Sequence Data
HLA-DRB1 Chains
Models, Genetic
Pedigree
European Continental Ancestry Group
Base Sequence
HLA-DR Antigens
HLA Antigens
Asian Continental Ancestry Group
Major Histocompatibility Complex
Geography
Evolution, Molecular
Genetic Association Studies
Phylogeography
Y Chromosome
HLA-DR3 Antigen
Polymerase Chain Reaction
Genes, MHC Class II
Phenotype
HLA-B Antigens
Genealogy and Heraldry
Heterozygote
Recombination, Genetic
Cytochromes b
Chromosomes, Human, Y
Bahrain
Mutation
African Continental Ancestry Group
HLA-B8 Antigen
Africa
HLA-A Antigens
Gene Pool
Polynesia
Europe
Likelihood Functions
Genes, MHC Class I
Promoter Regions, Genetic
Selection, Genetic
Genetic Loci
Algorithms
Gene Flow
HLA-A1 Antigen
DNA
Ethnic Groups
Indians, South American
Exons
Species Specificity
DNA Primers
Risk Factors
Genome, Human
South America
Asia
Introns
Diabetes Mellitus, Type 1
HLA-C Antigens
Receptors, KIR
Biological Evolution
Phenylketonurias
Siberia
Inheritance Patterns
Steroid 21-Hydroxylase
Genome-Wide Association Study
Tandem Repeat Sequences
Japan
Haploidy
Histocompatibility Testing
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.
Haplotype
Haplotype block
Modal haplotype
Haplotype estimation
Haplotype 35
Haplotype convergence
Atlantic modal haplotype
Preimplantation genetic haplotyping
Microfluidic whole genome haplotyping
HLA A1-B8 haplotype
Y Chromosome Haplotype Reference Database
A30-Cw5-B18-DR3-DQ2 (HLA Haplotype)
List of haplotype estimation and genotype imputation software
HLA-DR6
HLA-DR5
HLA-DQ6
Family Tree DNA
Genealogical DNA test
Nanopore sequencing
Genetic genealogy
International HapMap Project
Haplogroup J (Y-DNA)
Takabuti
Nam tiến
Self-incompatibility
Ann T. Bowling
HLA-DQ4
Onge
Tag SNP
Apolipoprotein AI
Haplotype - Wikipedia
Haplotype - Wikipedia
haplotypes | Keywords | EQUATOR Network
Direct haplotype-specific DNA sequencing | Nofima
SNCA Haplotyping in Parkinson's Disease and Multiple System Atrophy | Parkinson's Disease
Human leukocyte antigen alleles and haplotypes associated with selective immunoglobulin A deficiency in Spanish pediatric...
Investigation of the functional role of human Interleukin-8 gene haplotypes by CRISPR/Cas9 mediated genome editing
A reference panel of 64,976 haplotypes for genotype imputation | Lund University Publications
Rapid Selection of Plasmodium falciparum Chloroquine Resistance Transporter Gene and Multidrug Resistance Gene-1 Haplotypes...
GitHub - celaoforever/SHEsisPlus: a software package for analysis of genetic association, Hardy-weinberg equilibrium, linkage...
haplotype - HOPES Huntington's Disease
The Allele Frequency Net Database [Search HLA Haplotype Frequencies]
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...
The Allele Frequency Net Database [Search HLA Haplotype Frequencies]
Application of haplotype pair analysis for the identification of hemizygous loci | Journal of Medical Genetics
Fluidigm2PURC: automated processing and haplotype inference for double-barcoded PCR amplicons | UW Biology
Linkage disequilibrium maps: 'blocks' without haplotyping and application to disease mapping. - ePrints Soton
Plus it
Blood Group Haplotypes and Third Generation Sequencing | The International Society of Blood Transfusion (ISBT)
Long-term continuity of steppe grasslands in eastern Central Europe: Evidence from species distribution patterns and...
Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease...
Plus it
A2.10 SLE associated UBE2L3 haplotype modulates plasma cell differentiation via genotypic regulation of NF-κB | Annals of the...
Investigation of Imprinted Chromosomal Regions and Mitochondrial Haplotypes in Autism - Nancy Lurie Marks Family Foundation
mSciVul1.1 alternate haplotype Nov. 2019 hub 2100979 GCA 902685485.1 CACRXH010006917.1:487,278-497,278 UCSC Genome Browser v457
Haplotype And Functional Analysis Of Four Flavin-Containing Monooxygenase Isoform 2 (FMO2) Polymorphisms In Hispanics. |...
Direct observation of genomic heterogeneity through local haplotyping analysis | BMC Genomics | Full Text
Frequency of European and African-derived morphotypes and haplotypes in colonies of honey bees (Apis mellifera) from NW...
Alleles8
- 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)
Single-nucleotide p1
- A haplogroup is a group of similar haplotypes that share a common ancestor with a single-nucleotide polymorphism mutation. (wikipedia.org)
Genotype8
- 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)
Estimation of haplotype frequencies1
- 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)
Genotypes4
- 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)
Genome8
- 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)
SNPs4
- 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)
Frequencies4
- 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)
Perform haplotype2
- 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)
Genomic3
- 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)
Loci5
- 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)
Differentiation1
- Massive haplotypes underlie ecotypic differentiation in sunflowers. (bvsalud.org)
Recombination1
- 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)
Diploid organism1
- 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)
MtDNA2
- 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)
Infer1
- 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)
Linkage1
- Linkage disequilibrium maps: 'blocks' without haplotyping and application to disease mapping. (soton.ac.uk)
Locus6
- 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)
Genetic4
- 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)
Sequences1
- 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)
Sequencing4
- 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)
MAPT3
- 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)
Haplogroup2
- 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)
Significantly3
- 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)
Proteins1
- 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)
Analysis3
- 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)
Median1
- 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)
Genomes1
- This specifically corresponded to 70 haplotypes (64 unrelated and 6 children) from a diverse panel of human genomes. (frontlinegenomics.com)
Lineages1
- 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)
Amplicons1
- 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)
Algorithm1
- 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)
Distinct1
- The second outcome is that there are distinct variations in the haplotypes associated with PD and with MSA. (michaeljfox.org)
Frequency1
- 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)
Confer1
- 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)
Exon1
- 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)
Patterns1
- 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)
Data4
- 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)
Estimate1
- However, it is possible to estimate the probability of a particular haplotype when phase is ambiguous using a sample of individuals. (wikipedia.org)
Population1
- Conclusion: CD14 haplotypes and sCD14 are important mediators of lung function among those with COPD in this occupationally-exposed population. (cdc.gov)
Blocks1
- 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)
Disease1
- They found that specific MLH1 haplotypes were associated with the presence and family history of the disease in both CD and UC. (bmj.com)
Found1
- A total of four haplotypes was found. (go.jp)
Search1
- 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)
Examine1
- Instead, we examine all possible haplotypes with the explicit aim of evaluating evidence for heterogeneity in the tissue. (biomedcentral.com)
Variants2
- 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)
Association1
- 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)
Specific2
Differences1
- 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)
Study2
Common2
- 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)