Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Genetic loci associated with a QUANTITATIVE TRAIT.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Any method used for determining the location of and relative distances between genes on a chromosome.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Genotypic differences observed among individuals in a population.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
An individual having different alleles at one or more loci regarding a specific character.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
An individual in which both alleles at a given locus are identical.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
The relationships of groups of organisms as reflected by their genetic makeup.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
The functional hereditary units of PLANTS.
A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.
A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.
Biochemical identification of mutational changes in a nucleotide sequence.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
Tandem arrays of moderately repetitive, short (10-60 bases) DNA sequences which are found dispersed throughout the GENOME, at the ends of chromosomes (TELOMERES), and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Individuals whose ancestral origins are in the continent of Europe.
The functional hereditary units of BACTERIA.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Deoxyribonucleic acid that makes up the genetic material of plants.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Proteins found in any species of bacterium.
Alleles and effects[edit]. Locus Alleles Effect of combined pairs of alleles ... The location of a gene on a chromosome is called its locus. Alternate forms of a gene are called alleles.[3] The terms Alleles ... Geneticists symbolize this allele of the E gene E. The alternative allele to E is e. Allele e allows black pigment in the skin ... The dominant D allele is relatively rare compared to the alternative d allele, and for this reason, the dominant allele is ...
There are many other gene-alleles within the haplotype, including more than 250 coding loci that produce transcripts. ... In the US Caucasians, 57% of haplotypes with a core component, Cw7-B8, extend from HLA-A1 locus to DQ2 locus. This compares ... B*01 allele) and HLA show that the allele is in linkage disequilibrium with HLA-A1, Cw7, B8, C4A(Null), DR3, DQ2.5.[32] The ... Linkage could not be extended to HLA-DPB1 locus.[34] Outside of Europe the DRB1*0301 and DR3-DQ2 loci have been linked to ...
is the number of alleles at the target locus, and f. i. {\displaystyle f_{i}}. is the allele frequency of the i. t. h. {\ ... Zygosity may also refer to the origin(s) of the alleles in a genotype. When the two alleles at a locus originate from a common ... A diploid organism is heterozygous at a gene locus when its cells contain two different alleles (one wild-type allele and one ... For other genes, one allele may be common, and another allele may be rare. Sometimes, one allele is a disease-causing variation ...
The ABO locus encodes three alleles. The A allele produces α-1,3-N-acetylgalactosamine transferase (A-transferase), which ... Olsson ML, Thuresson B, Chester MA (November 1995). "An Ael allele-specific nucleotide insertion at the blood group ABO locus ... A multi-locus genetic risk score study based on a combination of 27 loci, including the ABO gene, identified individuals at ... Other minor alleles have been found for this gene. There are six common alleles in individuals of European descent. Nearly ...
Other mutant alleles at the waxy locus have been reported which possess similar starch properties to those observed with wx. ... Argentine waxy (wx-a) corn, an allele at the waxy locus first reported by Andrés and Bascialli, is known to produce small ... More than 40 mutant alleles are known for the waxy locus, making up the finest collection of mutations found among higher ... Nelson, O. E. (1968). "The waxy locus in maize. II. The location of the controlling element alleles." Genet. 60: 507-524. ...
Nelson OE (1968). "The waxy locus in maize. II The location of the controlling element alleles". Genetics. 60 (3): 507-524. PMC ... Tsai CY (1974). "The function of the waxy locus in starch synthesis in maize endosperm". Biochem. Genet. 11 (2): 83-96. doi: ...
There are numerous null genes at this locus. DRB5*01 allele group 14 Alleles: 11 proteins, 2 Nulls DR51 Serotype: *0101, *0102 ... DRB5* is subdivided into two allele groups, DRB5*01 and DRB5*02. B5*01 encodes 14 alleles and 11 isoforms. B5*02 encoded 4 ... 0110N DRB5*02 allele group 4 Alleles: 4 proteins DR51 Serotype: *0202, Serotype unknown: *0203 to *0205 DR51 serotype is ... HLA-DR51 is a HLA-DR serotype that recognizes the antigens encoded by the minor DR locus HLA-DRB5. DRB3, DRB4, and DRB5 are ...
Two-loci and two-alleles[edit]. Consider the haplotypes for two loci A and B with two alleles each-a two-loci, two-allele model ... at one locus (i.e. p. A. {\displaystyle p_{A}}. is the proportion of gametes with A at that locus), while at a different locus ... Table 2. Linkage disequilibrium among HLA alleles in pan-Europeans[15] HLA-A alleles i HLA-B alleles j Δ. i. j. {\displaystyle ... having allele A. 1. {\displaystyle A_{1}}. is p. 1. {\displaystyle p_{1}}. and the probability of the copy at locus B. {\ ...
When an allele (variant of a gene) drifts to fixation, the other allele at the same locus is lost, resulting in a loss in ... Heterozygosity is the fraction of individuals in a population that are heterozygous for a particular locus. Alleles per locus ... Gene flow can introduce novel alleles to a population. These alleles can be integrated into the population, thus increasing ... This occurs in host-pathogen interactions, where a high frequency of a defensive allele among the host means that it is more ...
If the DNA sequence at a particular locus varies between individuals, the different forms of this sequence are called alleles. ... 6. Locus-locus interactions *Epistasis with other loci (e.g., overdominance). *Gene coupling with other loci (also see crossing ... Autosomal - loci are not situated on a sex chromosome. *Gonosomal - loci are situated on a sex chromosome *X-chromosomal - loci ... Dominant and recessive alleles[edit]. An allele is said to be dominant if it is always expressed in the appearance of an ...
Locus:. A1. B1. Combinations Alleles 33. 78 2475 Subunit:. α. β isoforms ... The DQ loci are in close genetic linkage to HLA-DR, and less closely linked to HLA-DP, HLA-A, HLA-B and HLA-C. ... Both loci are variable in the human population (see regional evolution). Detecting DQ isoformsEdit. In the human population DQ ... The α and β chains are encoded by two loci, HLA-DQA1 and HLA-DQB1, that are adjacent to each other on chromosome band 6p21.3. ...
They are homozygous for the dominant SB1 allele at the Sabino 1 locus, which has been mapped to KIT. Without a DNA test, Sabino ... The progressive loss of colour in the hair of gray horses is controlled by a dominantly inherited allele at the Gray locus (GG ... Silvers, Willys K. (1979). "3: The b-Locus and c (Albino) Series of Alleles". The Coat Colors of Mice: A Model for Mammalian ... Foals are born any colour depending on the alleles present at other colour determining loci. After birth, horses carrying the ...
This might happen if a more extreme allele was available at the same locus; or genes at other loci might act as modifiers. We ... They are controlled by alleles at one locus, with the carbonaria being dominant. There is also an intermediate or semi-melanic ... In this instance the genetics appears to be simple: two alleles at a single locus, producing the three phenotypes. Total ... The phenotypes are controlled by multiple alleles at one locus. These polymorphisms are seemingly never eliminated by natural ...
... and the mutant allele. When more than two alleles are known, they form an allelic series. A locus is the physical location of a ... ISBN 978-0-06-080902-7. Silvers, Willys K. (1979). "3: The b-Locus and c (Albino) Series of Alleles". The Coat Colors of Mice: ... More KIT alleles are expected to be found with roles in white spotting. Most W alleles each occur within a specific breed or ... An allele is a specific version of a gene. Geneticists often discuss only two alleles at a time: the "wildtype" or normal ...
The second allele is O: children are either AB or O Second allele is A: Children are either AB or A Second allele is B: ... Do you know Bombay Blood Group? YIP, S. P. (January 2002). "Sequence variation at the human ABO locus". Annals of Human ... Antigen expression is weaker than A1 or B. When one parent carries a Cis AB allele, the other allele can be any of O, A or B. ... Roubinet F1, Janvier D, Blancher A. A novel cis AB allele derived from a B allele through a single point mutation. Transfusion ...
In addition to having more than one allele at a specific locus, each allele must also occur in the population at a rate of at ... For example, in dogs the E locus can have any of five different alleles, known as E, Em, Eg, Eh, and e. Varying combinations of ... A gene is said to be polymorphic if more than one allele occupies that gene's locus within a population. ... from concluding individuals who are homozygous for the Asn allele or homozygous for the Gln allele had an increased risk of ...
One allele will have a larger phenotypic value and the other allele will be silenced. Underdominance of the locus is another ... A single locus will entirely produce one's phenotype although two alleles are inherited. This genotype class is called parental ... When a locus is identified as imprinted, two different classes express different alleles. Inherited imprinted genes of ... The idea is frame worked using two alleles on a single loci and hosts three different possible classes of genotypes. The ...
The allele for the band is recessive. The Yb locus controls for a yellow band on the hindwing. The allele for this yellow band ... The K locus determines whether the medial band on the forewing, dorsally and ventrally, is yellow or white. An additional locus ... The Sb and Yb loci are tightly linked in H. cydno, although the exact distance is not known. The Sb locus controls for the ... There are four key loci that affect wing color and pattern in H. cydno. L determines whether a given individual has melanic ...
Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea ...
Distribution of allele frequencies and the number of alleles per locus. Genetics 94:1039-1063. Nei M, Fuerst PA, Chakraborty R ... Expected number of rare alleles per locus in a sample and estimation of mutation rates. Am. J. Hum. Genet. 33:481-484. ... such as the use of the number of rare alleles per locus to estimate mutation rates. The second area to which he made ... the distributions of allele frequencies, and the distribution of single locus heterozygosity. He also contributed to the ...
It is completely dominant to all other alleles at this locus. There are multiple modifier genes which control how much tan ... The allele which codes for this pattern is located at the agouti locus of the goat genome. ...
There are 13 alleles at this locus that encode 7 proteins. DRB3, DRB4, and DRB5 are minor DR beta encoding loci, they have been ... The DRB4*locus was apparently duplicated from an ancestor of the DRB1-DRB4 common locus around 5 million years ago. DRB4 locus ... DR53 reactive alleles: DRB4*0101, *0103 Unknown reactivity: *0102, *0104 to *0107 Null alleles: *0101102N, *01030102N, *0201N ... Gyllensten U, Sundvall M, Ezcurra I, Erlich HA (1991). "Genetic diversity at class II DRB loci of the primate MHC". J. Immunol ...
The HLA class II locus makes patients susceptible to the condition. Most SPS patients have the DQB1* 0201 allele.[2] This ... allele is also associated with type 1 diabetes.[28] Diagnosis[edit]. SPS is diagnosed by evaluating clinical findings and ...
Brumbaugh J.A.; Bargar T.W.; Oetting W.S. (1983). "A "new" allele at the C pigment locus in the fowl". Journal of Heredity. 74 ...
The HLA class II locus makes patients susceptible to the condition. Most SPS patients have the DQB1* 0201 allele. This allele ...
Each locus contains one allele of a gene; however, members of a population may have different alleles at the locus, each with a ... Alleles at a locus may be dominant or recessive; dominant alleles give rise to their corresponding phenotypes when paired with ... The wild-type allele is not necessarily the ancestor of less common alleles, nor is it necessarily fitter. Most mutations ... Most different alleles are functionally equivalent, however some alleles can give rise to different phenotypic traits. A gene's ...
Two gene loci and so four alleles exist. Two genetic loci exist for α-globin, thus four alleles are in diploid cells. Two ... Thus, in a normal person with two copies of each chromosome, two loci encode the β chain, and four loci encode the α chain. ... Mutated alleles are called β+ when partial function is conserved (either the protein has a reduced function, or it functions ... Deletion of one of the α loci has a high prevalence in people of African or Asian descent, making them more likely to develop α ...
These loci were all prone to null alleles. However, with the presence of these null alleles, the results may have been slightly ... DNA markers could not be used for testing, as the humphead wrasse lack such markers.) Of the 15 microsatellite loci used in the ... "Development and characterization of microsatellite loci in a threatened marine fish, Cheilinus undulatus (humphead wrasse)" ( ... researchers utilized a test using microsatellite loci to facilitate population genetic studies. ( ...
Although there is a possibility of pleiotropic effects of alleles at one particular locus, it is not likely given the ... Opisthosomal morphs appear to be dictated by alleles at one autosomal locus. Dominance typically comes from superimposing one ... On Maui, the color morphs of T. grallator originated from one locus while those on Hawai'i have at least two unlinked loci ... the amount of pigment present in the abdomen is correlated with the dominance of the associated allele. The alleles that are ...
A disease or syndrome may also be the result of the expression of mutant alleles at more than one locus. When more than one ... DNA locus associated with variation in a quantitative trait. A quantitative trait locus (QTL) is a locus (section of DNA) that ... For example, they may be interested in knowing whether a phenotype is shaped by many independent loci, or by a few loci, and do ... If n is the number of involved loci, then the coefficients of the binomial expansion of (a + b)2n will give the frequency of ...
... sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding ... evidence for a second polymorphic allele with a different frequency in the Caucasian and Japanese populations". Genomics. 14 (4 ... A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, ...
... and a perfect match at these loci is preferred. Even if there is a good match at these critical alleles, the recipient will ... Matching is performed on the basis of variability at three or more loci of the HLA gene, ... Even so-called "perfect matches" may have mismatched minor alleles that contribute to graft-versus-host disease. ... "The Geographic Spread of the CCR5 Δ32 HIV-Resistance Allele". PLoS Biology. 3 (11): e339. doi:10.1371/journal.pbio.0030339 ...
... that both alleles in one locus are derived from the same allele in an ancestor. These two identical alleles that are both ... Since they can be identical by descent by sampling the same allele or by sampling both alleles that happen to be identical by ... resulting in offspring with two recessive alleles, which can produce disorders when these alleles are deleterious.[14] Because ... which gives the probability that one randomly selected allele from A and another randomly selected allele from B are identical ...
The locus affects the expressed trait only through changing the expression of other loci. Over time, that locus would affect ... "Mini-muscle" allele[edit]. A gene recently discovered in laboratory house mice, termed "mini-muscle", causes a 50% reduction in ... A study on seed beetles found that intralocus sexual conflict arises when selection for certain alleles of a gene that are ... "Genuine" pleiotropy is when two distinct primary products arise from one locus. "Spurious" pleiotropy, on the other hand, is ...
Locus. Chr. Y p11. Amelogenin is the name for a series of closely related proteins involved in amelogenesis, the development of ... and between alleles of AMELY among different populations. This is because AMELY exists in the non-recombining region of ...
Kempton MJ, Ruberto G, Vassos E, Tatarelli R, Girardi P, Collier D, Frangou S (Dec 2009). "Effects of the CACNA1C risk allele ... "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595 ... a CACNA1C risk allele has been associated to a disruption in brain connectivity in patients with bipolar disorder, while not or ... "The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia". Molecular ...
... and is caused by the absence of a lactase persistence allele. In individuals without the lactase persistence allele, less ... The locus can be expressed as 2q21.[20] The lactase deficiency also could be linked to certain heritages and varies widely. A ... Lactase persistence is the phenotype associated with various autosomal dominant alleles prolonging the activity of lactase ... Different alleles for lactase persistence have developed at least three times in East African populations, with persistence ...
I. The Number of Alleles at Different Loci in Drosophila pseudoobscura. Genetics. 1966, 54: 546-595.. ; and Lewontin, R. C.; ... infinite alleles model),可以依據族群大小、突變率以及天擇對突變的影響來
January 2009). "Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity". ... http://www.informatics.jax.org/searches/allele_report.cgi?_Marker_key=537∫:_Set_key=847156 ... "Six new loci associated with body mass index highlight a neuronal influence on body weight regulation". Nature Genetics. 41 (1 ...
H மரபணு இருக்கையானது (locus) 19 வது நிறப்புரியில் அமைந்துள்ளது. இது மரபு டி.என்.ஏ வில் 5 kb க்கும் அதிகமான நீளத்துக்கு உள்ள, 3 ... மாற்றுரு பல்வகைமை (allele diversity) யினால் ஏற்படக்கூடிய கூர்ப்பை உருவாக்கும் திறனானது, எதிர்மறை அதிர்வெண் சார்ந்த தேர்வாக ( ... Seltsam A, Hallensleben M, Kollmann A, Blasczyk R (2003). "The nature of diversity and diversification at the ABO locus". Blood ... three major lineages of the alleles for the common ABO phenotypes". Human Genetics 97 (6): 777-83. doi:10.1007/BF02346189. ...
... interactions can occur between the two copies of each locus in heterozygotes. For a two locus, two allele system, there are ... Additive A locus. Additive B locus. Dominance A locus. Dominance B locus ... However, in general, the expression of any one allele depends in a complicated way on many other alleles. ... which is an interaction between alleles at the same gene locus. As the study of genetics developed, and with the advent of ...
2013). "Characterization and Haplotype analysis of 11 Y-STR loci in Ecuadorian population". Forensic Sci. Int. Genet. Suppl. ... allele under Q-MEH2. This study also reflects the results of some former studies (Sengupta 2006, Seielstad 2003). And, the ...
Inhibiting HDACs would allow for hyperacetylation of the SMN2 gene loci theoretically resulting in an increase in SMN2 ... and familial inheritance of apolipoprotein E allele epsilon 4. In addition to these common factors, there are a number of other ...
These alleles may be the same or different. An organism that has two identical alleles for a gene is said to be homozygous for ... A Mendelian trait is one that is controlled by a single locus in an inheritance pattern. In such cases, a mutation in a single ... Some alleles are dominant while others are recessive; an organism with at least one dominant allele will display the effect of ... Because allele pairs separate during gamete production, a sperm or egg carries only one allele for each inherited trait. When ...
... because in each chromosome of a pair there will be different alleles at many of the loci. But when the father is haploid all ... The model most commonly referred to is the complementary allele model. According to this model, if an individual is ... Another feature of the haplodiploidy system is that recessive lethal and deleterious alleles will be removed from the ... van Wilgenburg, Ellen; Driessen, Gerard & Beukeboom, Leo W. Single locus complementary sex determination in Hymenoptera: an " ...
... subjects who carried one or two copies of the short allele of the serotonin transporter promoter polymorphism exhibited higher ... a phenomenon in mammals where the father and mother contribute different epigenetic patterns for specific genomic loci in their ... focused on epigenetic differences between monozygotic twins to compare global and locus-specific changes in DNA methylation and ... systems that orchestrates chromatin-based silencing is the SIR protein based silencing of the yeast hidden mating type loci HML ...
... "sex locus" - simply possessing this allele caused the organism to be male.[12] The chromosome with this allele became the Y ... Conversely, advantageous alleles may be selected against if they are surrounded by harmful alleles (background selection). Due ... Deleterious alleles are allowed to "hitchhike" with beneficial neighbors, thus propagating maladapted alleles into the next ... For cytogenetic banding nomenclature, see article locus. *^ a b These values (ISCN start/stop) are based on the length of bands ...
Cardon LR, Abecasis GR (2003). "Using haplotype blocks to map human complex trait loci". Trends Genet. 19: 135-140. doi:10.1016 ... Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH (2004). "Multiple rare alleles contribute to low plasma ... Association studies can produce spurious results if cases and controls have differing allele frequencies for genes that are not ... The difficulty that has been encountered in finding contributory alleles for complex diseases and in replicating positive ...
In addition, MDA shows a high ratio of allele dropout, not detecting alleles from heterozygous samples. Various SNP algorithms ... "Amplification of multiple genomic loci from single cells isolated by laser micro-dissection of tissues". BMC Biotechnology. 8 ...
For example, individuals with TT allele pair at SNP rs10993994 were reported to be at 1.6 times higher risk of prostate cancer ... "Multiple loci identified in a genome-wide association study of prostate cancer". Nature Genetics. 40 (3): 310-5. doi:10.1038/ng ... "The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in ... since the C allele is much more prevalent in the latter; this SNP is located in the promoter region of the MSMB gene, thus ...
Isolation of a candidate for the human Secretor blood group locus". J. Biol. Chem. 270 (9): 4632-9. doi:10.1074/jbc.270.9.4632 ... 2005). "Two prevalent h alleles in para-Bombay haplotypes among 250,000 Taiwanese". Ann. Clin. Lab. Sci. 34 (3): 314-8. PMID ... and association between FUT2 and FUT2/01 loci". Hum. Biol. 76 (5): 789-95. doi:10.1353/hub.2005.0008. PMID 15757249. Madjd Z; ... fucosyltransferase gene and two H locus-related DNA restriction fragments. ...
Rare alleles present at high frequencies (excess of rare alleles) Recent selective sweep, population expansion after a recent ... is the mutation rate at the examined genomic locus, and i is the index of summation. But selection, demographic fluctuations ... Rare alleles present at low frequency (lack of rare alleles) Balancing selection, sudden population contraction ...
Their experiment revealed linkage between the P and L alleles and the p and l alleles. The frequency of P occurring together ... If the loci we're analysing are very close (less than 7 cM) a double crossover is very unlikely. When distances become higher, ... Their experiment revealed linkage between the P and L alleles and the p and l alleles. The frequency of P occurring together ... The reason 0.5 is used in the denominator is that any alleles that are completely unlinked (e.g. alleles on separate ...
... the absence of the common 19-repeat allele in the IGF1 gene is also positively associated with breast volume in women, as well ... "Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size". J. Med. Genet. 50 (10): 666-73. ... There is great variation in the prevalence of the IGF1 19-repeat allele between ethnic groups, and its absence has been ...
... three susceptibility loci have been found for AF (4q25, 1q21 and 16q22).[45] In these loci there are SNPs associated with a 30 ... The African descent is associated with a protective effect of AF, due to the low presence of SNPs with guanine alleles, in ... This finding led to the mapping of different loci such as 10q22-24, 6q14-16 and 11p15-5.3 and discover mutations associated ... A GWAS meta-analysis study conducted in 2018 revealed the discovery of 70 new loci associated with AF. Different variants have ...
Iton allele in usa ha duha or durudamo nga mga porma hin gene o locus henetika. ... Ginkuha tikang ha "https://war.wikipedia.org/w/index.php?title=Allele&oldid=2260319" ...
The source of colour is the E Locus (MC1R), which has four alleles: EM, EG, E, and e. The EM, E and e alleles are present in ... Red and Lemon colours are caused by the e allele of MC1R. The e allele is recessive, so red and lemon dogs are homozygous e/e. ... The EM allele produces a black mask on the face that may extend up around the eyes and onto the ears. This pattern is most ... The E allele allows for the production of both red and black pigments, so is present with the majority of colour patterns in ...
ISO-ALLELES AT THE BOBBED LOCUS IN DROSOPHILA HYDEI POPULATIONS Message Subject (Your Name) has forwarded a page to you from ... ISO-ALLELES AT THE BOBBED LOCUS IN DROSOPHILA HYDEI POPULATIONS. Warren P. Spencer ... ISO-ALLELES AT THE BOBBED LOCUS IN DROSOPHILA HYDEI POPULATIONS. Warren P. Spencer ... ISO-ALLELES AT THE BOBBED LOCUS IN DROSOPHILA HYDEI POPULATIONS. Warren P. Spencer ...
One-Locus Two-Allele Models With Maternal (Parental) Selection. Sergey Gavrilets. Genetics June 1, 1998 vol. 149 no. 2 1147- ... One-Locus Two-Allele Models With Maternal (Parental) Selection. Sergey Gavrilets. Genetics June 1, 1998 vol. 149 no. 2 1147- ... One-Locus Two-Allele Models With Maternal (Parental) Selection. Sergey Gavrilets. Genetics June 1, 1998 vol. 149 no. 2 1147- ... One-Locus Two-Allele Models With Maternal (Parental) Selection Message Subject (Your Name) has forwarded a page to you from ...
Molecular dissection of alleles of the osmotic-1 locus of Neurospora crassa.. Miller TK1, Renault S, Selitrennikoff CP. ... The osmotic-1 (OS-1) locus of Neurospora crassa encodes a predicted protein with homology to histidine kinases and appears to ... Mutants of the OS-1 locus are hypersensitive to salt and are strongly resistant to dicarboximide antifungals. Molecular ...
Hemoglobin Loci: Mice Classified for Their Hb and Sol Alleles Message Subject. (Your Name) has forwarded a page to you from ... Two loci which influence the structure of the alpha and beta chains of hemoglobin have been identified and are designated Sol ... At least four alleles at Sol and two at Hb have been distinguished among inbred strains. ...
... and one type of yellow mouse are due to recessive alleles at the extension locus. Similarly, dominant alleles at this locus are ... Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function.. ... We show here that the murine extension locus encodes the melanocyte-stimulating hormone (MSH) receptor. In mice, the recessive ... The sombre (Eso and Eso-3J) and tobacco darkening (Etob) alleles, which both have dominant melanizing effects, results from ...
ABO BLOOD GROUP SYSTEM LECTURE SLIDE 004: Bernstein proposed the one gene locus-three alleles model in 1924. ...
The estimated frequencies of the G6PD*B normal allele, the G6PD*A variant (376G), and the G6PD*A- allele were 0.698, 0.194, and ... G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa). ... "G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)," Human Biology 79(6), ... "G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)," Human Biology, 79(6), ...
Genetic susceptibility to IDDM is encoded by several loci, one of which (IDDM2) maps to a variable number of tandem repeats ( ... Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus Nat Genet. 1997 Mar;15(3):289-92. doi: ... The short class I VNTR alleles (26-63 repeats) predispose to IDDM, while class III alleles (140-210 repeats) have a dominant ... Genetic susceptibility to IDDM is encoded by several loci, one of which (IDDM2) maps to a variable number of tandem repeats ( ...
In this study, we further extend the G2A model to general multi-allele (GMA) model. First, we propose a one-locus GMA model for ... In this study, we further extend the G2A model to general multi-allele (GMA) model. First, we propose a one-locus GMA model for ... Thirdly, we extend the one-locus GMA models to multiple loci. We discuss how the genetic variance components can be analyzed ... Thirdly, we extend the one-locus GMA models to multiple loci. We discuss how the genetic variance components can be analyzed ...
In an association analysis comparing cases and controls with respect to allele frequencies at a highly polymorphic locus, a ... Monte Carlo tests for associations between disease and alleles at highly polymorphic loci Ann Hum Genet. 1995 Jan;59(1):97-105. ... In an association analysis comparing cases and controls with respect to allele frequencies at a highly polymorphic locus, a ... Combining rare alleles to avoid small expected cell counts, and considering each allele in turn against the rest, reduced the ...
Eight microsatellite loci were used for the analysis of 30 worker ants. The results show the presence of seven alleles ... Because this is an unusual finding, all of the alleles were sequenced, and surprisingly, an eighth allele was identified. These ... "Characterization of Allele Diversity in a Microsatellite Locus: A Registry for Solenopsis invicta" written by Rodrigo Fernando ...
A total of 344 unrelated Japanese adults were genotyped to determine allele frequencies and evaluate forensic parameters for 10 ... autosomal supplementary non-CODIS loci and 2 autosomal CODIS loci using... ... Allele frequencies and forensic genetic parameters of 10 supplementary and two CODIS loci in a Japanese population genotyped ... allele frequencies and evaluate forensic parameters for 10 autosomal supplementary non-CODIS loci and 2 autosomal CODIS loci ...
A search for the putative disease-associated TNF/LT alleles depends on the informative genetic markers at the TNF locus. ... DNA sequence polymorphism at the human tumor necrosis factor (TNF) locus. Numerous TNF/lymphotoxin alleles tagged by two ... DNA sequence polymorphism at the human tumor necrosis factor (TNF) locus. Numerous TNF/lymphotoxin alleles tagged by two ... DNA sequence polymorphism at the human tumor necrosis factor (TNF) locus. Numerous TNF/lymphotoxin alleles tagged by two ...
Segregation distortion of wild-type alleles at the Machado-Joseph disease locus : a study in normal families from the Azores ... Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci MACMILLAN JC ... Non-Mendelian transmission at the Machado-Joseph disease locus in normal females : preferential transmission of alleles with ... maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families IUGHETTI P ...
Payne PI, Lawrence GJ (1983) Catalogue of alleles for the complex gene loci, Glu-A1, Glu-B1 and Glu-D1 which code for the high- ... A second overexpression allele at the Glu-B1 high-molecular-weight glutenin locus of wheat: sequence characterisation and ... Based on protein and DNA assays, the Glu-B1 allele of H45 seems to be Glu-B1al, an allele that includes a functional ... Molecular discrimination of Bx7 alleles demonstrates that a highly expressed high-molecular-weight glutenin allele has a major ...
Allele- and Locus-Specific Recognition of Class I MHC Molecules by the Immunomodulatory E3-19K Protein from Adenovirus. Hong ... Allele- and Locus-Specific Recognition of Class I MHC Molecules by the Immunomodulatory E3-19K Protein from Adenovirus ... Allele- and Locus-Specific Recognition of Class I MHC Molecules by the Immunomodulatory E3-19K Protein from Adenovirus ... Allele- and Locus-Specific Recognition of Class I MHC Molecules by the Immunomodulatory E3-19K Protein from Adenovirus ...
Trinucleotide Repeats at the rad Locus: Allele Distributions in NIDDM and Mapping to a 3-cM Region on Chromosome 16q. ... Trinucleotide Repeats at the rad Locus: Allele Distributions in NIDDM and Mapping to a 3-cM Region on Chromosome 16q ... Trinucleotide Repeats at the rad Locus: Allele Distributions in NIDDM and Mapping to a 3-cM Region on Chromosome 16q ... Trinucleotide Repeats at the rad Locus: Allele Distributions in NIDDM and Mapping to a 3-cM Region on Chromosome 16q ...
Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic ... Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic ... may explain part of the risk in this locus. Associations with alleles outside the 8.1AH reveal differences between PM, DM and ... HLA imputation confirmed that alleles HLA-DRB1*03:01 and HLA-B*08:01 of the 8.1 ancestral haplotype (8.1AH) are most strongly ...
"Constraints on Allele Size at Microsatellite Loci: Implications for Genetic Differentiation, Genetics" on DeepDyve, the largest ... Constraints on Allele Size at Microsatellite Loci: Implications for Genetic Differentiation. Constraints on Allele Size at ... Constraints on Allele Size at Microsatellite Loci: Implications for Genetic Differentiation. M. J. Nauta and F. J. Weissing ... Weissing, J.F.A.N.J.M. (1996). Constraints on Allele Size at Microsatellite Loci: Implications for Genetic Differentiation. ...
In this study, we described a novel strategy for identifying the proteins that bind to the SNP‑containing locus in an allele‑ ... non-risk allele and forward orientation, risk allele and reverse orientation, and non-risk allele and reverse orientation. The ... Identification of allele-specific DNA-binding proteins. We compared the bound proteins of the risk and non-risk alleles and ... 1A). In order to identify the allele-specific binding proteins, we first prepared 2 types of beads, risk and non-risk allele ...
... castanea.Loci 7-23 are shown in (A) and loci 24-30 in (B). ... Baseline allele frequencies for all loci, averaged across all ... Excluding these two potentially problematic loci, remaining loci had 2-11 alleles per locus, with an average observed ... Excluding these two potentially problematic loci, remaining loci had 2-11 alleles per locus, with an average observed ... Calculation of allele frequencies across the study area revealed that loci CC-10 and CC-30 are the only two loci where a single ...
In Neurospora crassa, 11 het loci have been genetically characterized (33, 35); the het-clocus was one of the first het loci ... The het-c locus has at least three mutually incompatible alleles, termed het-cOR, het-cPA , and het-cGR . Hyphal fusion between ... The po3 allele has ahet-cPA -specific insertion in an otherwisehet-cOR allele. The introduction ofpo3 into C9-2 (PA), C2-2-9 ( ... Putative multiple alleles at the vegetative (heterokaryon) incompatibility loci het-c and het-8 in Neurospora crassa.Fungal ...
The allele frequency spectrum detected in the Azerbaijani sample were compared to allele frequencies from 5 other data sets ... Significant global differences in allele frequencies were detected. Key words: Azerbaijan population, short tandem repeat DNA ... loci included in the AmpFlSTR® Identifiler® PCR Amplification Kit from Applied Biosystems (D8S1179, D21S11, D7S820, CSF1PO, ... Allele frequencies for 15 autosomal short tandem repeat (STR) ... typing (STR DNA typing), population data, allele frequencies. ...
A SYSTEMIC REGULATORY LOCUS ASSOCIATED WITH TWO NEW STRUCTURAL ALLELES OF MURINE β-GLUCURONIDASE IN M. MUSCULUS CASTANEUS. K. ... A SYSTEMIC REGULATORY LOCUS ASSOCIATED WITH TWO NEW STRUCTURAL ALLELES OF MURINE β-GLUCURONIDASE IN M. MUSCULUS CASTANEUS ... A SYSTEMIC REGULATORY LOCUS ASSOCIATED WITH TWO NEW STRUCTURAL ALLELES OF MURINE β-GLUCURONIDASE IN M. MUSCULUS CASTANEUS ... A SYSTEMIC REGULATORY LOCUS ASSOCIATED WITH TWO NEW STRUCTURAL ALLELES OF MURINE β-GLUCURONIDASE IN M. MUSCULUS CASTANEUS ...
... genetic resources for the molecular identification of previously undescribed functional alleles at the Pm3 resistance locus ... Here we describe a large-scale allele-mining project at the molecular level. We first selected a set of 1,320 bread wheat ... Here we describe a large-scale allele-mining project at the molecular level. We first selected a set of 1,320 bread wheat ... On the basis of a hierarchical selection procedure on this set, we then isolated 7 resistance alleles of the powdery mildew ...
N-terminal amino acid sequences of prolamins encoded by the alleles at the Pro1 and Pro2 loci in foxtail millet, Setaria ... which is controlled by an allele at the Pro1 locus and bands 1, 2, 4, 5 and 6 which are controlled by alleles at the Pro2 locus ... N-terminal amino acid sequences of prolamins encoded by the alleles at the Pro1 and Pro2 loci in foxtail millet, Setaria ... Geographical variation of the alleles at the two prolamin loci, Pro1 and Pro2, in foxtail millet, Setaria italica (L.) P. Beauv ...
Regulatory hierarchy of photomorphogenic loci: allele-specific and light-dependent interaction between the HY5 and COP1 loci.. ... Regulatory hierarchy of photomorphogenic loci: allele-specific and light-dependent interaction between the HY5 and COP1 loci. ... Regulatory hierarchy of photomorphogenic loci: allele-specific and light-dependent interaction between the HY5 and COP1 loci. ... Regulatory hierarchy of photomorphogenic loci: allele-specific and light-dependent interaction between the HY5 and COP1 loci. ...
Identification and properties of a novel allele ofscalloped and of a new locus, SG18.1, in a Gal4 enhancer trap screen. ... Daniels S. B., McCarron M., Love C. and Chovnick A. 1985 Dysgenesis induced instability ofrosy locus transformation in ... Analysis of thescalloped locus. Ph.D. thesis, University of Bombay, Bombay, India.Google Scholar ...
... allele frequency distributions of the five marker loci in Japanese population, and evaluation of Amp-PM markers for typing of ... Allele frequencies and haplotypic associations defined by allelic DNA typing at HLA class I and class II loci in the Japanese ... Allele frequency distributions of five loci (LDLR, GYPA, HBGG, D7S8 and GC) in a Japanese population: Application of AmpliType ... Allele frequency distributions at several variable number of tandem repeat (VNTR) and short tandem repeat (STR) loci in a ...
Allele frequencies of the five miniSTR loci D1S1656, D2S441, D10S1248, D12S391 and D22S1045 in an Italian population sample - ... Allele frequencies of the five miniSTR loci D1S1656, D2S441, D10S1248, D12S391 and D22S1045 in an Italian population sample. ... In order to enrich the population data of Italian allele frequencies, five new ENFSI/EDNAP miniSTR loci D1S1656, D2S441, ...
  • We prove a result concerning the joint distribution of alleles at linked loci on a chromosome drawn from the population at stationarity. (lancs.ac.uk)
  • In Chapter 4, the allele sharing method was applied to two replicated linkage regions on chromosome 4p15-16 that segregate with bipolar affective disorder. (ed.ac.uk)
  • An allele is a form of a gene at a particular position ( locus ) on a chromosome . (wikipedia.org)
  • The location of a gene on a chromosome is called its locus. (wikipedia.org)
  • The location of a schizophrenia susceptibility locus at chromosome 22q11 has been suggested by genome-wide linkage studies. (pnas.org)
  • Genes code for proteins , alleles are variants of genes, and loci are locations on the chromosome. (socratic.org)
  • [1] The haplotype begins before the TRIM27 locus approximately 28.8 million nucleotides from the telomere of chromosome 6's shorter arm. (wikipedia.org)
  • Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. (regionh.dk)
  • Recessive mutant alleles at the pink-eyed dilution (p) locus on mouse chromosome 7 reduce pigmentation of both the coat and eyes. (meta.org)
  • This genome-based, meta-QTL analysis enabled the identification of a locus on chromosome 6A whose introgression from wild wheat positively affects GW. (mdpi.com)
  • We use the term locus to refer to the site a gene occupies in the chromosome. (earthlink.net)
  • Genomic probes from the Hε46 locus were mapped to a genetic locus closely linked to Fu on chromosome 17 and were hybridized to a YAC contig covering the Fu(Ki) critical region. (princeton.edu)
  • Assignment of the tibial muscular dystrophy locus to chromosome 2q31. (readabstracts.com)
  • A quantitative trait locus (QTL) for milk fat percentage has been mapped consistently to the centromeric region of bovine chromosome 14 (BTA14). (publisso.de)
  • Using DNA samples from blood donors, two families, and three human cell lines, we detected 13 distinct alleles of the AC/GT microsatellite neighboring human TNF genes. (jimmunol.org)
  • These results suggest that alleles at the Pro1 locus and those at the Pro2 locus have not arisen from an identical ancestral gene, and that the Pro2 locus comprise two tightly linked genes, which encode similar prolamins. (eurekamag.com)
  • Our analysis of eight European-specific susceptibility genes using HapMap data shows that at the NOD2 locus the CD-risk alleles are linked with a haplotype specific to CEU at a frequency that is significantly higher compared with the entire genome. (tcd.ie)
  • Using a novel and fast genotyping method called Kompetitive Allele Specific PCR (KASP™), we carried out a pilot study on 48 single nucleotide polymorphisms (SNPs) belonging to 40 genes in French Alpine ( n = 24) and Saanen ( n = 25) goats reared in Romania. (peerj.com)
  • Alleles or genes which are not sex-linked are called autosomal . (wikipedia.org)
  • Genome-wide association data was used to predict alleles of 7 classical polymorphic HLA genes (A, B, C, DRB1, DQA1, DQB1, DPB1) in 403 lifetime PTSD cases and 369 trauma exposed controls of African ancestry. (cdc.gov)
  • The evolving delineation of distinct multiple human dopamine receptors and the increasing availability of polymorphic DN A probes from the receptor loci allows to test for the involvement of the dopamine receptor genes in the etiology of the disease. (elsevier.com)
  • It is debatable whether the size of triplet repeats of the fragile X mental retardation genes FMR1 and FMR2 (found at the FRAXA and FRAXE loci) is associated with Parkinson's disease (PD). (cdc.gov)
  • 5.4 %, 1.9 % and 1.5 % of genes assayed in forebrain of B6/129SF1, B6/DBAF1, and B6/CASTF1 mice, respectively, showed differential allelic expression, indicative of cis -acting alleles at these genes. (biomedcentral.com)
  • Via a survey for differential allele expression in F1 mice, a substantial proportion of genes were found to have alleles altering expression in cis -acting fashion. (biomedcentral.com)
  • Multigene haplotypes following standard dynamics only exist in robust populations for a short time, the average distance between genes of about 200,000 nts, which means that over 250 generations (~5000 years) one expects 1/2 of adjacent genes to have new gene-alleles, unless the genes are small and very close together. (wikipedia.org)
  • At 4.7 million nucleotides in length and ~300 genes the locus had resisted the effects of recombination, either as a consequence of recombination-obstruction within the DNA, as a consequence of repeated selection for the entire haplotype, or both. (wikipedia.org)
  • While increased grain weight (GW) continues to be an important goal of many wheat breeding programs, few genes underlying this trait have been identified despite an abundance of studies reporting quantitative trait loci (QTL) for GW. (mdpi.com)
  • 4. To account for these results, Mendel postulated that genes have alternative forms (now called alleles) and that each organism inherits one allele for each gene from each parent. (earthlink.net)
  • After fertilization, if the two alleles of the pair are different, one (the dominant allele) is fully expressed in the offspring and the other (the recessive allele) is completely masked (Mendel's principle of dominance) Today we know that the genes are in chromosomes. (earthlink.net)
  • Here, we show that the orthologs (alleles) of Xa3/Xa26, Xa3/Xa26-2, and Xa3/Xa26-3, from wild Oryza species O. officinalis (CC genome) and O. minuta (BBCC genome), respectively, were also R genes against Xoo. (edu.sa)
  • eQTL analysis of locus 2q24 showing the association between rs13417783 and tibial nerve-specific expression of neighboring genes. (diabetesjournals.org)
  • A number of primers were designed which target DNA sequence variation of the coding and /or promoter regions of wheat HMW glutenin y-type genes located at the Glu-B1 locus. (cgiar.org)
  • Molecular characterization of NBS-LRR genes in the soybean Rsv3 locus reveals several divergent alleles that likely confer resistance to the soybean mosaic virus. (pacb.com)
  • The divergence patterns of NBS - LRR genes in soybean Rsv3 locus were deciphered and several divergent alleles ( NBS_C, NBS_D and Columbia NBS_E ) were identified as the likely functional candidates of Rsv3. (pacb.com)
  • The soybean Rsv3 locus, which confers resistance to the soybean mosaic virus (SMV), has been previously mapped to a region containing five nucleotide binding site-leucine-rich repeats (NBS-LRR) genes (referred to as nbs_A-E) in Williams 82. (pacb.com)
  • In resistant cultivars, however, the number of NBS-LRR genes in this region and their divergence from susceptible alleles remain unclear. (pacb.com)
  • Analyses of 259 independent families segregating a BBS phenotype indicate that BBS1 participates in complex inheritance and that, in different families, mutations in BBS1 can interact genetically with mutations at each of the other known BBS genes, as well as at unknown loci, to cause the phenotype. (duke.edu)
  • The distribution of BBS oligogenic alleles also indicates that all BBS loci might interact genetically with each other, but some genes, especially BBS2 and BBS6, are more likely to participate in triallelic inheritance, suggesting a variable ability of the BBS proteins to interact genetically with each other. (duke.edu)
  • All G6PD*A- alleles share the RFLP-microsatellite haplotype - - /195, the same haplotype described in nearly all the *A- alleles from sub-Saharan, Mexican Mestizo, and Portuguese populations, consistent with a single and recent origin of the G202A mutation on this *A haplotype. (bioone.org)
  • Mutation pressure has the inherent tendency to shift different populations to the distribution of alleles. (deepdyve.com)
  • The allele frequency spectrum detected in the Azerbaijani sample were compared to allele frequencies from 5 other data sets from published studies of individuals from Turkey, Iran, Russian, Caucasians and American populations. (academicjournals.org)
  • Risk alleles for complex diseases are widely spread throughout human populations. (tcd.ie)
  • However, little is known about the geographic distribution and frequencies of risk alleles, which may contribute to differences in disease susceptibility and prevalence among populations. (tcd.ie)
  • We subsequently examined nine global populations and found that the CD-risk alleles spread through hitchhiking with a high-frequency haplotype (H1) exclusive to Europeans. (tcd.ie)
  • Hardy-Weinberg test results: reject the null that these populations are under HWE for all 6 loci. (washington.edu)
  • The frequency of V allele was larger than that of I allele in all populations. (ajas.info)
  • G allele frequency was larger than that of S allele in all populations except Large White (population A). Both variations at the PRKAG3 locus significantly affected these meat quality traits. (ajas.info)
  • Eighteen main-effect QTLs were identified for the four traits in the two IL populations, and the IR75862 alleles at most loci showed increased and decreased salt tolerance in the ZGX1 and Ce258 backgrounds, suggesting overwhelming genetic background effects on QTL detection for salt tolerance. (cgiar.org)
  • Ten microsatellite loci were tested on 34 individuals of M. balata from two natural populations. (mdpi.com)
  • Nearly every living human's phenotype for the ABO gene is some combination of just these six alleles: A A101 (A1) A201 (A2) B B101 (B1) O O01 (O1) O02 (O1v) O03 (O2) Many rare variants of these alleles have been found in human populations around the world. (wikipedia.org)
  • Primer sequences, size range of amplification product, and multiplex assignment for each of the fourteen microsatellite loci are presented in Table 2. (nih.gov)
  • A generic estimation of population subdivision using distances between alleles with special reference for microsatellite loci. (semanticscholar.org)
  • First, we propose a one-locus GMA model for phase known genotypes based on modeling the inheritance of paternal and maternal alleles. (frontiersin.org)
  • Next, we develop a one-locus GMA model for phase unknown genotypes by treating it as a special case of the phase known one-locus GMA model. (frontiersin.org)
  • All genotypes of the 5 loci could be detected from every saliva stains from 12 donors, but the genotypes estimated from 3 saliva samples unexpectedly did not correspond to those on the blood from same donors. (eurekamag.com)
  • That is, the phenotype produced by the two alleles in heterozygous combination is identical to that produced by one of the two homozygous genotypes. (wikipedia.org)
  • The PRKAG3 alleles 199I, 199IV, 52S and 52G were identified with PCR-RFLPs and all genotypes - 199I/199I, 199I/199V, 199V/199V, 52S/52S, 52S/52G and 52G/52G - were found. (ajas.info)
  • To solve this problem, we developed Stacks , software that identifies loci, either de novo or from a reference genome, and calls genotypes using a maximum likelihood statistical model. (g3journal.org)
  • Our results verify the efficacy and efficiency of Stacks for inferring genetic loci and automated calling of genotypes. (g3journal.org)
  • For all loci, the observed genotypes were found to be in agreement with those expected by the Hardy-Weinberg equilibrium. (uab.edu)
  • DNA fragments encompassing SNPs, and risk or non‑risk alleles were immobilized onto the novel nanobeads and DNA‑binding proteins were purified from the nuclear extracts of pancreatic β cells using these DNA‑immobilized nanobeads. (spandidos-publications.com)
  • Crohn's disease risk alleles on the NOD2 locus have been maintained by natural selection on standing variation. (tcd.ie)
  • We propose that several CD-risk alleles, which destabilize and disrupt the NOD2 protein, have been maintained by natural selection on standing variation because the deleterious haplotype of NOD2 is advantageous in diploid individuals due to heterozygote advantage and/or intergenic interactions. (tcd.ie)
  • Mouse GWAS appear to be far ahead of rat studies, and significantly more mouse QTLs correspond to human RA risk alleles. (hindawi.com)
  • If the two alleles are identical, the individual is called a homozygote and is said to be homozygous . (wikipedia.org)
  • When an individual's gene set contains two copies of the same allele, it is called homozygous for that gene. (wikipedia.org)
  • A horse homozygous for a certain allele will always pass it on to its offspring, while a horse that is heterozygous carries two different alleles and can pass on either one. (wikipedia.org)
  • 5. Homozygous individuals have two identical alleles for a given character and are true-breeding. (earthlink.net)
  • Embryos homozygous for the Hε46 insertion die at day 9-10 post coitum and display phenotypic defects similar to those associated with Fu alleles. (princeton.edu)
  • Consistent with this model, we identified homozygous M390R alleles, the most frequent BBS1 mutation, in asymptomatic individuals in two families. (duke.edu)
  • Namely, we show that alleles of the DGAT1 promoter derived from the variable number of tandem repeat (VNTR) polymorphism are associated with milk fat content in animals homozygous for the allele 232A at DGAT1. (publisso.de)
  • Calculation of allele frequencies across the study area revealed that loci CC-10 and CC-30 are the only two loci where a single allele has a frequency of greater than 0.7 (Fig. 1). (nih.gov)
  • Allele and genotype frequency differences imply that different ethnic groups should be mixed with extreme caution before performing linkage and association studies. (biomedcentral.com)
  • I allele frequency was zero in Chinese Meishan pigs (population D) especially. (ajas.info)
  • Non-synonymous changes in key functional portions of a major transcription factor are likely to be deleterious but if maintained in a dominant allele at low frequency, heterozygosity would reduce the associated genetic load. (beds.ac.uk)
  • Molecular dissection of alleles of the osmotic-1 locus of Neurospora crassa. (nih.gov)
  • Based on protein and DNA assays, the Glu - B1 allele of H45 seems to be Glu - B1al, an allele that includes a functional duplication of a gene encoding an x-type high-molecular-weight glutenin subunit, and is thought to increase dough strength through overexpression of that subunit. (springer.com)
  • Butow BJ, Ma W, Gale KR, Cornish GB, Rampling L, Larroque O, Morell MK, Békés F (2003) Molecular discrimination of Bx7 alleles demonstrates that a highly expressed high-molecular-weight glutenin allele has a major impact on wheat flour dough strength. (springer.com)
  • Here we describe a large-scale allele-mining project at the molecular level. (uzh.ch)
  • This targeted approach for molecular utilization of gene bank accessions reveals landraces as a rich resource of new functional alleles. (uzh.ch)
  • The HLA-C locus profile of this cohort was studied by methods based on molecular biology and was compared with that of 45 patients with psoriasis vulgaris and 177 healthy blood donors from the same ethnic origin. (biomedcentral.com)
  • This demonstrates that an additive, gain-of-function allele contributes to meiotic stability and fertility in a recently established allopolyploid and provides an Arabidopsis system to decipher evolutionary and molecular mechanisms of meiotic regularity in polyploids. (plantcell.org)
  • Genetic and molecular characterization of a locus involved in avirulence of Blumeria graminis f. sp. (uzh.ch)
  • Kempthorne (1954 , 1957 ) further extended the two-locus model to multiple alleles. (frontiersin.org)
  • Some of these patterns may be the result of a single gene, others may be influenced by multiple alleles. (wikipedia.org)
  • The segregation of multiple alleles affecting milk production traits at the QTL on BTA14 has to be considered whenever marker-assisted selection programs are implemented in dairy cattle. (publisso.de)
  • Furthermore, this allele is independent of the alleles at different loci on any chromosomes in the population. (lancs.ac.uk)
  • Since such organisms have two sets of chromosomes, they have (except on the sex chromosomes ) two alleles at each gene locus . (wikipedia.org)
  • Alleles differ by origin if they come from the same locus on different chromosomes. (wikipedia.org)
  • Because sex cells (sperm and ova) contain only half the usual number of chromosomes , each parent contributes one allele in each gene set to the ensuing offspring. (wikipedia.org)
  • Alleles occupy corresponding loci on homologous chromosomes. (earthlink.net)
  • abstract = "This contribution reports the preliminary genetic analysis of six new alleles generated by the transposable element Mutator at the Reduced-grain filling 1 (Rgf1) locus. (unicatt.it)
  • abstract = "Using a bromodeoxyuridine incorporation method to detect replicated DNA, we studied allele-specific replication for several sites within the human Prader-Willi/Angelman and IGF2/H19 imprinted regions. (elsevier.com)
  • abstract = "Spontaneous mutations at the mouse Fused (Fu) locus cause dominant skeletal and neurological defects and recessive lethal embryonic defects including neuroectodermal abnormalities and axial duplications. (princeton.edu)
  • In filamentous fungi, nonself recognition during vegetative growth is believed to be mediated by genetic differences at heterokaryon incompatibility ( het ) loci. (asm.org)
  • Significant global differences in allele frequencies were detected. (academicjournals.org)
  • Associations with alleles outside the 8.1AH reveal differences between PM, DM and JDM. (ugent.be)
  • No significant differences of genotype or allele frequencies could be found between patients and controls. (elsevier.com)
  • Anno, S, Abe, T & Yamamoto, T 2009, ' Interactions between SNP Alleles at Multiple Loci Contribute to Racial Differences in Skin Color ', 4th Annual Academic Session 2009, Institute of Medicine, University of Brunei, Brunei Darussalam . (elsevier.com)
  • No obvious allele-specific differences in time of replication were detected at most loci previously reported to replicate asynchronously in the same cell types as determined by a FISH-based replication assay. (elsevier.com)
  • Our studies suggest that FISH data implying replication asynchrony in nonexpressing cells reflect structural differences between the maternal and paternal alleles rather than differences in replication timing. (elsevier.com)
  • Test the null hypothesis that alleles observed at different loci are not linked. (washington.edu)
  • A total of 344 unrelated Japanese adults were genotyped to determine allele frequencies and evaluate forensic parameters for 10 autosomal supplementary non-CODIS loci and 2 autosomal CODIS loci using an Investigator® HDplex Kit for complex relationship testing. (springer.com)
  • Haplotypes: the joint distribution of alleles at linked loci. (lancs.ac.uk)
  • An E-M algorithm and testing strategy for multiple-locus haplotypes. (semanticscholar.org)
  • We also conducted linkage disequilibrium (LD) analysis to identify associated marker loci and to estimate the haplotype frequencies in each of the seven ethnic groups in an attempt to find valuable haplotypes so that the level of polymorphism of the "markers" could be increased. (biomedcentral.com)
  • The length of the haplotype is remarkable because of the rapid rate of evolution at the HLA locus should degrade such long haplotypes. (wikipedia.org)
  • While limited associations were observed between individual HLA alleles or haplotypes and variable lymphocyte proliferative (LP) responses to AVA, analyses of homozygosity supported the hypothesis of a "heterozygote advantage. (cdc.gov)
  • DNA sequence polymorphism at the human tumor necrosis factor (TNF) locus. (jimmunol.org)
  • Previously, a low degree of genetic polymorphism at the human TNF locus has been reported, mostly bi-allelic RFLP. (jimmunol.org)
  • A 10-allele polymorphism was identified in rad ( ras associated with diabetes), a gene that is overexpressed in non-insulin-dependent diabetes mellitus (NIDDM) muscle. (diabetesjournals.org)
  • The age of the polymorphism and the rate at which new alleles are generated at HLA loci has caused much controversy over the years. (anthropogeny.org)
  • Animal studies on rats and mice preferentially have used single sequence length polymorphism (SSLP) markers to identify disease-associated qualitative and quantitative trait loci (QTLs) in the genome of F2 hybrids of arthritis-susceptible and arthritis-resistant rodent strains. (hindawi.com)
  • T polymorphism-especially the presence of one copy of the T allele-appears to confer a potential risk for the development of AD. (hindawi.com)
  • A McDonald-Kreitman test conducted on a population sample from South Africa confirms a significant excess of intraspecific non-synonymous diversity in P. dardanus engrailed , suggesting long-term balanced polymorphism at this locus. (beds.ac.uk)
  • The high level of intraspecific polymorphism observed is characteristic of balancing selection on this locus, as expected if the gene engrailed is under phenotypic selection for the maintenance of multiple mimetic morphs. (beds.ac.uk)
  • Such situations can lead to the evolution of supergenes [ 3 ] where a single genetic locus comes to determine the polymorphism. (beds.ac.uk)
  • a single allele for each locus is inherited from each parent. (google.com)
  • Lanubile, A , Marocco, A & Pasini, L 2009, ' Mutator-induced alleles at the reduced grain filling-1 locus of maize ', MAIZE GENETICS COOPERATION NEWSLETTER , pagg. (unicatt.it)
  • Prakash, S & Levitan, M 1974, ' Association of alleles of the malic dehydrogenase locus with a pericentric inversion in Drosophila robusta ', Genetics , vol. 77, no. 3, pp. 565-568. (utmb.edu)
  • HLA-Cw*0602 seems to confer a general risk for psoriasis, but the presence of other HLA-C locus alleles may explain an additional arthritogenic risk. (biomedcentral.com)
  • Few studies have investigated the potential role of HLA-C locus alleles in the clinical expression of PsA, so this study was undertaken to determine the relative contribution of HLA-C alleles to psoriasis and PsA susceptibility, and as a subsidiary purpose to evaluate whether these alleles confer some additional clinical feature on this disease. (biomedcentral.com)
  • The observation that a deletion that not only removes the Bx locus but also adjacent DNA results in a hdp-a phenotype without the Bx phenotype indicates that wild-type hdp-a gene function is necessary for the expression of the Bx phenotype ( 15 ). (pnas.org)
  • In other cases, both alleles contribute to the phenotype. (wikipedia.org)
  • If they are heterozygous with a dominant allele, the appearance ( phenotype ) is the same as a dominant homozygote. (wikipedia.org)
  • Only if both alleles are recessive does the recessive allele show in the phenotype b. (wikipedia.org)
  • Here, we investigate the evolutionary history of the HLA-DRB1 locus on the basis of an analysis of 15 genomic full-length alleles (10-15 kb). (anthropogeny.org)
  • Stacks , named because the restriction enzyme site that anchors each short sequence causes reads at a locus to pile up, is effective for genomic applications ranging from linkage mapping to population genomic and phylogeographic studies. (g3journal.org)
  • A genomic probe from the wild-type Hε46 locus detected a transcript that is disrupted by the transgenic insertion, representing a candidate for the wild- type allele of Fused. (princeton.edu)
  • The HLA region harbors some of the most polymorphic loci in the human genome. (anthropogeny.org)
  • Taken together, the recent origin of most alleles, the high diversity between allelic lineages, and the ancient origin of sequence motifs in exon 2, is consistent with a relatively rapid generation of novel alleles by gene conversion like events. (anthropogeny.org)
  • Similarly, dominant alleles at this locus are often responsible for dark coat colors in mammals, such as the melanic form of the leopard, Panthera pardus. (nih.gov)
  • In this example, parents have the genotype Bb (capital letters show dominant alleles and lower-case letters to show recessive alleles). (wikipedia.org)
  • Crystal already determined bins, rounded the microsatellite data to produce: 100 samples with diploid genotype data across 6 loci (2 alleles per loci). (washington.edu)
  • Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. (uchicago.edu)
  • Each autosomal gene is therefore represented by two copies, or alleles, with one copy inherited from each parent at fertilization. (wikipedia.org)
  • Some non-synonymous changes are shared between the divergent alleles suggesting either convergence or a shared ancestry. (beds.ac.uk)
  • In case of allozymes or sequence data, the diversifylng effect of drift is typically orders of magnitude larger than the homogenizing effect of mutation pressure.By a simple model, w demonstrate that the situation may be different for microsatellites where e mutation rates are high and the range of alleles is limited. (deepdyve.com)
  • Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci. (gersteinlab.org)
  • Full-length sequence analysis of the HLA-DRB1 locus suggests a recent origin of alleles. (anthropogeny.org)
  • HLA-A locus alleles identified by sequence specific PCR. (ox.ac.uk)
  • two alleles, at the D1S1656 locus: 7 and 8, had been previously reported, but no published sequence data was available. (uclan.ac.uk)
  • Here we present the sequence and structure of the previously uncharacterized alleles. (uclan.ac.uk)
  • Stacks is a software system that uses short-read sequence data to identify and genotype loci in a set of individuals either de novo or by comparison to a reference genome. (g3journal.org)
  • The coding sequence of this gene ( TtGRF4-A ) contains four single nucleotide polymorphisms (SNPs) between Zavitan and Svevo, one of which reveals the Zavitan allele to be rare in a core collection of wild emmer and completely absent from the domesticated emmer genepool. (mdpi.com)
  • All loci were polymorphic, with number of alleles ranging from 2-11 and average observed heterozygosity of 0.631. (nih.gov)
  • Excluding these two potentially problematic loci, remaining loci had 2-11 alleles per locus, with an average observed heterozygosity of 0.631 (±0.227) (Table 2). (nih.gov)
  • 2007): the loci these authors cross-amplified from C. brevicauda to C. castanea showed 2-18 alleles per locus, with an average observed heterozygosity of 0.69. (nih.gov)
  • To evaluate the usefulness of these markers, we estimated the informativeness of each marker loci in the seven ethnic groups by assessing their heterozygosity and PIC values. (biomedcentral.com)
  • class I (HLA-A) and class II (HLA-DQA1 and HLA-DQB1) homozygosity was significantly associated with an overall decrease in LP compared with heterozygosity at those three loci. (cdc.gov)
  • A new trait could be turning an allele for black hair into an allele for white hair.The appearance of new traits is important in evolution. (wikibooks.org)
  • Genetic susceptibility to IDDM is encoded by several loci, one of which (IDDM2) maps to a variable number of tandem repeats (VNTR) minisatellite, upstream of the insulin gene (INS). (nih.gov)
  • Genotype and allele frequencies at seven Variable Number of Tandem Repeats (VNTR) loci currently used for forensic purposes have been estimated in a population sample from Calabria (south Italy). (uab.edu)
  • To promote further studies to test the hypothesis that genetic variability at the rad locus contributes to NIDDM, we mapped rad on the human genome. (diabetesjournals.org)
  • Similarly, another wild emmer accession (G18-16) was found to carry a rare allele of TtGRF4-A that also positively affects GW and is characterized by a unique SNP absent from the entire core collection. (mdpi.com)
  • Other minor alleles have been found for this gene. (wikipedia.org)
  • A comparison of biochemical properties of the human diaphorase (DIA 3 ) isozymes determined by the common alleles DIA 3 1 , DIA 3 2 and DIA 3 3 . (nature.com)
  • There are six common alleles in individuals of European descent. (wikipedia.org)
  • This is when the dominant allele is not completely dominant over the recessive allele. (wikipedia.org)
  • In this case the functional product formed is a little different or is intermediate between the product produced by to the dominant allele and the recessive allele. (wikipedia.org)
  • Jung JY, Kim EH, Oh Y-L, Park HC, Hwang JH, Lim SK (2017) Evaluation of forensic genetic parameters of 12 STR loci in the Korean population using the Investigator® HDplex kit. (springer.com)
  • Azerbaijan population, short tandem repeat DNA typing (STR DNA typing), population data, allele frequencies. (academicjournals.org)
  • In order to enrich the population data of Italian allele frequencies, five new ENFSI/EDNAP miniSTR loci D1S1656, D2S441, D10S1248, D12S391 and D22S1045 were tested in 100 unrelated Italian individuals living in Ferrara, using two different commercial multiplexes. (minervamedica.it)
  • A measure of population subdivision based on microsatellite allele frequencies. (semanticscholar.org)
  • Pooling samples without regard to ethnicity where the allele frequencies are different in different ethnic groups may lead to problems relevant to population admixture. (biomedcentral.com)
  • The F2 population displayed variation in meiotic regularity and pollen viability that correlated with a single quantitative trait locus, which we named BOY NAMED SUE , and whose beneficial allele was contributed by A. suecica . (plantcell.org)
  • When profiling a reference dataset of 500 DNA samples for the population of Saudi Arabia, using the GlobalFiler® PCR amplification kit, six unusual alleles were detected. (uclan.ac.uk)
  • How are new alleles introduced into a population, and how are they maintained in the face of varying types of selection? (beds.ac.uk)
  • Moreover, our statistical analyses indicate that the prevalence of the M390R allele in the general population is consistent with an oligogenic rather than a recessive model of disease transmission. (duke.edu)
  • Similar levels of microsatellite diversity were found on variants G6PD*B and G6PD*A ( H = 0.61 and 0.68, respectively), indicating a similar age for both alleles. (bioone.org)
  • 700) SNP examination of the MHC region in the benign and malignant patients could not identify variants differing significantly between the two groups, suggesting that HLA-DRB1 may itself be the disease-modifying locus. (ox.ac.uk)
  • More recently, a genome wide association study (GWAS) has identified variants in the ABO locus associated with susceptibility to pancreatic cancer. (wikipedia.org)
  • G6PD locus haplotype diversity was also investigated using six intragenic RFLPs ( Fok I, Pvu II, Bsp HI, Pst I, Bcl I, Nla III) and a (CTT) n microsatellite 18.61 kb within the G6PD locus. (bioone.org)
  • Global gene banks conserve diversity, but these resources remain underexplored owing to a lack of efficient strategies to isolate important alleles. (uzh.ch)
  • On the basis of a hierarchical selection procedure on this set, we then isolated 7 resistance alleles of the powdery mildew resistance gene Pm3, doubling the known functional allelic diversity at this locus. (uzh.ch)
  • These results exemplify the rich genetic diversity of wild wheat, posit TtGRF4-A as a candidate gene underlying the 6A GW QTL, and suggest that the natural Zavitan and G18-16 alleles of TtGRF4-A have potential to increase wheat yields in breeding programs. (mdpi.com)
  • Genotyping peaks were of very low quality for two loci and were consequently abandoned for the genetic diversity analyses. (mdpi.com)
  • The short class I VNTR alleles (26-63 repeats) predispose to IDDM, while class III alleles (140-210 repeats) have a dominant protective effect. (nih.gov)
  • We mapped and characterized three (TC/GA) and one (AC/GT) repeats within cloned 40-kb DNA comprising the human TNF locus. (jimmunol.org)
  • All subjects were screened for the size of CGG and CCG repeats at the FRAXA and FRAXE loci, respectively. (cdc.gov)
  • If instead the two alleles are different, the individual is a heterozygote and is heterozygous . (wikipedia.org)
  • When it has two different alleles, it is heterozygous . (wikipedia.org)
  • Heterozygous individuals have two different alleles for a given character. (earthlink.net)
  • In an association analysis comparing cases and controls with respect to allele frequencies at a highly polymorphic locus, a potential problem is that the conventional chi-squared test may not be valid for a large, sparse contingency table. (nih.gov)
  • An individual's immune response is shaped, in part, by the highly polymorphic Human Leukocyte Antigen (HLA) locus that is associated with major psychiatric disorders such as schizophrenia, major depression and bipolar disorder. (cdc.gov)
  • For a neutral locus, the allele is a draw from the stationary distribution of the mutation process. (lancs.ac.uk)
  • In this thesis, I describe a method for studying allele sharing in families that share a linkage region, to identify a common founder mutation, thus maximising the results of replicated linkage studies. (ed.ac.uk)
  • Here, we describe a new allele at the Fu locus caused by a transgenic insertional mutation, Hε46. (princeton.edu)
  • The osmotic-1 (OS-1) locus of Neurospora crassa encodes a predicted protein with homology to histidine kinases and appears to be an osmosensor. (nih.gov)
  • We show here that the murine extension locus encodes the melanocyte-stimulating hormone (MSH) receptor. (nih.gov)
  • The ABO locus encodes three alleles. (wikipedia.org)
  • The B allele encodes α-1,3-galactosyl transferase (B-transferase), which catalyzes the transfer of Gal residues from the UDP-Gal donor nucleotide to the Gal residues of the acceptor H antigen, converting the H antigen into B antigen in B and AB individuals. (wikipedia.org)
  • HLA imputation confirmed that alleles HLA-DRB1*03:01 and HLA-B*08:01 of the 8.1 ancestral haplotype (8.1AH) are most strongly associated with IIM, and provides evidence that amino acids within the HLA, such as HLA-DQB1 position 57 in DM, may explain part of the risk in this locus. (ugent.be)
  • These results suggest that SNP rs2074196 modulates the affinity of the locus for NF‑Y and possibly induces subsequent changes in gene expression. (spandidos-publications.com)
  • The effect of HLA alleles on gene expression was assessed by weighted correlation network analysis (WGCNA), using 353 subjects with available expression data. (cdc.gov)
  • Gene expression modules of PTSD-related HLA alleles were enriched in various pathways, including pathways related to immune and neural activity. (cdc.gov)
  • Our finding of an absence of allelic replication asynchrony may be related to low levels of imprinted gene expression near these loci in the examined cells (lymphocytes, fibroblasts and lymphoblastoid cells). (elsevier.com)
  • NES is the normalized effect size, i.e., the slope of the linear regression between minor (T) allele dosage and gene expression. (diabetesjournals.org)
  • The findings of this study indicate that our comparative method using novel nanobeads is effective for the identification of allele‑specific DNA‑binding proteins, which may provide important clues for the functional impact of disease‑associated non‑coding SNPs. (spandidos-publications.com)
  • An alignment of functional and marker-defined units is proposed, giving a linear complementation map that orders at least four functional loci. (meta.org)
  • In genetic association studies, we are often interested in direct comparison of the expected genotypic values at certain QTL or marker loci. (frontiersin.org)
  • The allele rate in CC-24 is moderate and this locus was not out of HWE, so we consider it a reliable marker for use in C. castanea. (nih.gov)
  • The marker CC-30 was significantly out of HWE and showed a fairly high allele rate in these analyses, so it is not likely that this marker will prove to be reliable for use in this species. (nih.gov)
  • This marker allows discrimination of alleles containing By8 and By8* that are usually difficult to distinguish using SDS-PAGE. (cgiar.org)
  • This marker also represents an alternative for distinguishing two common Glu-B1 alleles: Glu-Bli (Bx17+ By18) and Glu-B1b (Bx7+By8). (cgiar.org)
  • Nine to ten loci cross-amplified reliably in Mauritian species, for the other three species, four to six loci show successful amplifications. (mdpi.com)
  • Two-locus LD analysis reveals that three pairs of loci are strongly associated together: B-18(A/C) with B1013(A/C), DA11(C/T) with DA160(A/G), SP-A1 with SP-A2. (biomedcentral.com)
  • In search of a more plausible mechanism for the dominant effect of class III alleles, we analysed expression of insulin in human fetal thymus, a critical site for tolerance induction to self proteins. (nih.gov)
  • In this study, we described a novel strategy for identifying the proteins that bind to the SNP‑containing locus in an allele‑specific manner and successfully applied this method to SNPs in the type 2 diabetes mellitus susceptibility gene, potassium voltage‑gated channel, KQT‑like subfamily Q, member 1 (KCNQ1). (spandidos-publications.com)
  • Comparative analysis of the allele-specific DNA-binding proteins indicated that the affinities of several proteins for the examined SNPs differed between the alleles. (spandidos-publications.com)
  • The sombre (Eso and Eso-3J) and tobacco darkening (Etob) alleles, which both have dominant melanizing effects, results from point mutations that produce hyperactive MSH receptors. (nih.gov)
  • proposed a general two-allele (G2A) model to model bi-allelic quantitative trait loci (QTL). (frontiersin.org)
  • Cockerham (1954 , 1963 ) extended Fisher's one-locus model to two bi-allelic QTL with a particular focus on epistatic variance components. (frontiersin.org)
  • proposed a general two-allele (G2A) model for variance component analysis on bi-allelic QTL. (frontiersin.org)
  • This view is supported by our studies of the imprinted SNRPN gene in that cells with paternal allele-specific expression (lymphocytes and lymphoblasts) replicate SNRPN alleles asynchronously, whereas cells with a low level of expression (HeLa) replicate SNRPN later and with less allelic asynchrony. (elsevier.com)
  • Licínio Manco , Laura R. Botigué , M. Letícia Ribeiro , and Augusto Abade "G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)," Human Biology 79(6), 679-686, (1 December 2007). (bioone.org)
  • There are many other gene-alleles within the haplotype, including more than 250 coding loci that produce transcripts. (wikipedia.org)
  • Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. (nih.gov)
  • Coat colors in the chestnut horse, the yellow Labrador retriever, the red fox, and one type of yellow mouse are due to recessive alleles at the extension locus. (nih.gov)
  • Red horses were created with a modification of the extension locus. (wikipedia.org)
  • Genetic and mutational analyses have indicated that, in some families, a combination of three mutant alleles at two loci (triallelic inheritance) is necessary for pathogenesis. (duke.edu)
  • [3] The terms Alleles and Modifiers are used interchangeably and describe the same concept. (wikipedia.org)
  • Overall, the study suggests that transmission intensity can be an efficient driver for genetic differentiation at both neutral and adaptive loci across India. (nyu.edu)