Genetic Loci
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.
Chromosome Mapping
Genetic Linkage
Genetic Markers
Genome-Wide Association Study
Phenotype
Crosses, Genetic
Genotype
Lod Score
Polymorphism, Single Nucleotide
Genetic Predisposition to Disease
Molecular Sequence Data
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.
Mutation
Microsatellite Repeats
Pedigree
Base Sequence
Models, Genetic
Genes
Quantitative Trait, Heritable
Genes, Dominant
Chromosomes, Mammalian
Sequence Analysis, DNA
Alleles
Mutagenesis, Insertional
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.
Polymorphism, Genetic
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.
Mice, Congenic
Genetic Complementation Test
Recombination, Genetic
DNA Transposable Elements
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.
Amino Acid Sequence
Cloning, Molecular
Gene Frequency
Linkage Disequilibrium
Chromosomes, Human, Pair 19
Species Specificity
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.
Chromosomes, Bacterial
Chromosomes, Human, Pair 1
Genome, Human
Genetics, Population
Mice, Inbred Strains
Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.
Polymerase Chain Reaction
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.
Restriction Mapping
Polymorphism, Restriction Fragment Length
Chromosomes, Human, Pair 12
Heterozygote
Chromosomes
Chromosomes, Human, Pair 10
Genetic Heterogeneity
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Chromosomes, Human, Pair 2
Multigene Family
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)
Genetic Association Studies
Genes, Regulator
Physical Chromosome Mapping
Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed)
DNA Primers
DNA
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).
Gene Expression Regulation, Bacterial
Escherichia coli
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Haplotypes
X Chromosome
Animals, Congenic
Transcription, Genetic
Chromosomes, Human, Pair 5
Plasmids
Hybridization, Genetic
Multifactorial Inheritance
Genome
Blotting, Southern
Chromosomes, Human, Pair 11
Evolution, Molecular
Transduction, Genetic
Chromosomes, Human, Pair 7
Selection, Genetic
Chromosomes, Human, Pair 17
Immunogenetics
Hybrid Cells
Chromosomes, Human, Pair 4
Gene Expression Regulation
European Continental Ancestry Group
Drosophila melanogaster
Epistasis, Genetic
A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.
Mutagenesis
Chromosomes, Human
Sequence Homology, Amino Acid
Nucleic Acid Hybridization
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Chromosomes, Human, Pair 9
Exons
Virulence
Chromosomes, Human, Pair 8
Chromosomes, Human, Pair 16
Open Reading Frames
Conjugation, Genetic
A parasexual process in BACTERIA; ALGAE; FUNGI; and ciliate EUKARYOTA for achieving exchange of chromosome material during fusion of two cells. In bacteria, this is a uni-directional transfer of genetic material; in protozoa it is a bi-directional exchange. In algae and fungi, it is a form of sexual reproduction, with the union of male and female gametes.
Cosmids
Sequence Alignment
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.
Chromosomes, Human, Pair 13
Drug Resistance, Microbial
Case-Control Studies
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.
Asian Continental Ancestry Group
Biological Evolution
Transcription Factors
Promoter Regions, Genetic
Retinitis Pigmentosa
Gene Expression Profiling
Chromosomes, Human, X
Likelihood Functions
Transformation, Genetic
Family Health
Sequence Homology, Nucleic Acid
RNA, Messenger
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.
Genomic Library
Penetrance
Arabidopsis
Loss of Heterozygosity
Gene Expression
Cohort Studies
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
Introns
Tandem Repeat Sequences
Meta-Analysis as Topic
A quantitative method of combining the results of independent studies (usually drawn from the published literature) and synthesizing summaries and conclusions which may be used to evaluate therapeutic effectiveness, plan new studies, etc., with application chiefly in the areas of research and medicine.
DNA Restriction Enzymes
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
Lactobacillaceae
Genomic Imprinting
Genetic Testing
Age of Onset
Membrane Proteins
Genetic Techniques
DNA Probes
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
Genetics, Microbial
In Situ Hybridization, Fluorescence
Oligonucleotide Array Sequence Analysis
Diploidy
Electrophoresis, Starch Gel
Disease Models, Animal
Gene Library
Major Histocompatibility Complex
The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement.
Phytoplasma
A genus of minute bacteria in the family ACHOLEPLASMATACEAE that inhabit phloem sieve elements of infected PLANTS and cause symptoms such as yellowing, phyllody, and witches' brooms. Organisms lack a CELL WALL and thus are similar to MYCOPLASMA in animals. They are transmitted by over 100 species of INSECTS especially leafhoppers, planthoppers, and PSYLLIDS.
Gene Knockout Techniques
Genes, Suppressor
Saccharomyces cerevisiae
Gene Dosage
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Salmonella typhimurium
Suppression, Genetic
Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).
Myxococcus xanthus
Chromatin
Chromosomes, Human, Pair 22
Carrier Proteins
Disease Susceptibility
Chromosomes, Plant
DNA-Binding Proteins
Siblings
Ethyl Methanesulfonate
DNA Methylation
Mice, Transgenic
Mice, 129 Strain
Chromosomes, Human, Pair 6
Seeds
Temperature
Spastic Paraplegia, Hereditary
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
Proteins
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Chromosomes, Human, Pair 3
Inheritance Patterns
Enhancer Elements, Genetic
Immunity, Innate
Rhizobium
Genes, Mating Type, Fungal
Genes, Tumor Suppressor
Transformation, Bacterial
Repressor Proteins
Risk Factors
Conserved Sequence
Cluster Analysis
A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.
Principal Component Analysis
Computational Biology
A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.
Chromosomes, Human, Pair 20
Spontaneous regression over time of the germinal epithelium in a Y chromosome-microdeleted patient: Case report. (1/3144)
Azoospermia factor (AZF) region microdeletions, which account for about 10-15% of patients with oligoazoospermia, seem to lack a close genotype-testicular phenotype correlation. Although many genetic and non-genetic factors may contribute to this outcome, it was thought that a spontaneous regression of testicular germ cells might also play a relevant role. The opportunity for carrying out two different testicular biopsies one year apart in an AZFc-microdeleted patient enabled corroboration of this possibility. Indeed, the first biopsy showed a spermatocyte maturation arrest with mean Johnsen scores of 4 and 3.9 in the right and left testes respectively. One year later, the right testicular biopsy showed a picture of Sertoli cell-only syndrome in 90% of the tubules examined, and of spermatogonial maturation arrest in the remaining tubules, with a mean Johnsen score of 2.1. The almost complete absence of germinal cells was confirmed by four left testicular sperm aspirations (TESA), conducted at the same time as the biopsy during an intracytoplasmic sperm injection cycle, which showed the almost exclusive presence of Sertoli cells (85% of the whole cell population). No spermatozoa could be retrieved by TESA or testicular biopsy. To our knowledge, this is the first case of a spontaneous regression of the germinal cell epithelium over time in a patient with a Yq microdeletion without the apparent intervention of any cause known to affect the germinal epithelium. (+info)High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. (2/3144)
We have developed a rapid screening protocol for deletion analysis of the complete AZFa sequence (i.e. 792 kb) on the Y chromosome of patients with idiopathic Sertoli-cell-only (SCO) syndrome. This Y deletion was mapped earlier in proximal Yq11 and first found in the Y chromosome of the SCO patient JOLAR, now designated as the AZFa reference patient. We now show that similar AZFa deletions occur with a frequency of 9% in the SCO patient group. In two multiplex polymerase chain reaction experiments, deletions of the complete AZFa sequence were identified by a typical deletion pattern of four new sequence-tagged sites (STS): AZFa-prox1, positive; AZFa-prox2, negative; AZFa-dist1, negative; AZFa-dist2, positive. The STS were established in the proximal and distal neighbourhoods of the two retroviral sequence blocks (HERV15yq1 and HERV15yq2) which encompass the break-point sites for AZFa deletions of the human Y chromosome. We have found deletions of the complete AZFa sequence always associated with a uniform SCO pattern on testicular biopsies. Patients with other testicular histologies as described in the literature and in this paper have only partial AZFa deletions. The current AZFa screening protocols can therefore be improved by analysing the extension of AZFa deletions. This may provide a valuable prognostic tool for infertility clinics performing testicular sperm extraction, as it would enable the exclusion of AZFa patients with a complete SCO syndrome. (+info)Y-chromosome microdeletions and cytogenetic findings in unselected ICSI candidates at a Danish fertility clinic. (3/3144)
PURPOSE: To determine the frequency and type of microdeletions on the Y chromosome, and to evaluate cytogenetic findings in unselected ICSI candidates at a Danish Fertility Clinic. METHODS: Genomic DNA was extracted from blood samples, which were collected prospectively from 400 ICSI candidates attending the Fertility Clinic at Aarhus University Hospital, Denmark. Twenty-five sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified in 5 multiplex sets to investigate Y microdeletions. Semen analysis, karyotype analysis, and histological evaluation of testicular biopsies were also performed. RESULTS: Y microdeletions were detected in 3 (0.75%) of 400 unselected ICSI candidates. The frequency of Y microdeletions was found higher in azoospermic men (2%) than in oligozoospermic men (0.6%). Two patients having oligozoospermia had Y microdeletions in the AZFc region only, whereas the patient having azoospermia had Y microdeletions spanning the AZFb and AZFc regions. No microdeletion was detected in the AZFa region. Chromosomal anomalies were found in 6.1% of azoospermic men and in 2.7% of oligozoospermic men. A high frequency of cytogenetic abnormalities was found in normozoospermic men with fertilization failure (7.4%). CONCLUSIONS: The frequency of Y microdeletions both in the unselected ICSI candidates and subgroups classified as azoospermic and oligozoospermic seems rather low compared to results of previous studies, which have been quite varying. It is possible that in addition to patient selection criteria, ethnical and geographical differences may contribute to these variations. Cytogenetic evaluation of normozoospermic men with fertilization failure seems indicated because of a high frequency of cytogenetic abnormalities. (+info)Absence of anti-Mullerian hormone (AMH) and M2A immunoreactivities in Sertoli cell-only syndrome and maturation arrest with and without AZF microdeletions. (4/3144)
BACKGROUND: Some genes identified in the AZF locus are expressed only in germinal cells; others are ubiquitous. AZF microdeletions seem to occur at the earliest stages of ontogenetic development, and one might therefore assume that Sertoli cells preserve some immature characteristics and that their immunophenotype may be modified by the existence of a molecular defect. MATERIALS AND METHODS: Two immunohistological markers of Sertoli cell immaturity [anti-Mullerian hormone (AMH) and M2A] were tested in two histopathological groups (maturation arrest at spermatocyte I stage and Sertoli cell-only syndrome). We analysed 68 testicular samples obtained from 39 patients with non-obstructive azoospermia associated or not with AZF microdeletions. RESULTS: The absence of M2A and AMH immunoreactivity in adult gonads was observed without any correlation to spermatogenetic impairment or molecular deficit in the AZF region. In the samples of these two series, Sertoli cells showed a mature phenotype for AMH and M2A markers. CONCLUSIONS: In patients with AZF microdeletions, the genotype-phenotype correlations seem to be more complex than has been suggested previously; more detailed characterization of the immunohistochemical phenotype associated with the molecular defect may be useful in understanding the spermatogenic failure mechanism. (+info)Natural transmission of a partial AZFb deletion of the Y chromosome over three generations: case report. (5/3144)
The natural transmission of microdeletions of the Y chromosome is occasionally reported in the literature. Here we describe the natural transmission of a partial AZFb deletion over three generations. PCR amplification of several sequence tagged site markers in the three AZF regions of the Y chromosome was carried out in a patient with oligoasthenoteratozoospermia, his father and his naturally conceived son. The deletion was confirmed by Southern blotting. The propositum, his father and his son showed a probably identical, partial deletion of the distal part of the AZFb region, involving sY130 and sY143. The deletion was confirmed by Southern blotting using the sY130 probe. Partial AZFb microdeletions can be associated with moderate oligozoospermia allowing natural conception and therefore natural transmission of this genetic anomaly. Further studies are needed to define the pathogenetic significance of microdeletions involving sY130 and sY143. (+info)Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. (6/3144)
BACKGROUND: Severe spermatogenic compromise may be the result of a Y-chromosomal deletion of the AZFc region. Prior studies are limited to relatively small numbers of AZFc-deleted men. In this study, we have fully characterized 42 infertile men with a Y chromosome microdeletion strictly confined to the AZFc region, and we report on 18 children conceived through the use of ICSI. METHODS: A total of 42 oligospermic or azoospermic men had AZFc deletions. History, physical examination, karyotype, FSH, LH, testosterone, testis histology and results of ICSI using ejaculated or testis sperm were retrospectively accumulated in two academic clinical practices. RESULTS: All men were somatically healthy. Karyotypes were 46,XY in all but two men. FSH, LH, testosterone and testis histology could not differentiate those with oligospermia or azoospermia, nor could they predict whether sperm could be found in harvested testis tissue. Paternal age was not increased. Sperm production appeared stable over time. The results of ICSI were not affected by the AZFc deletion. All but one of the offspring were healthy. The sons inherited the AZFc deletion with no increase in length. CONCLUSIONS: AZFc-deleted men are somatically healthy, will most likely have useable sperm, will have stable sperm production over time and will have a good chance to experience biological paternity, but their sons will also be AZFc-deleted. (+info)AZF microdeletions associated with idiopathic and non-idiopathic cases with cryptorchidism and varicocele. (7/3144)
AIM: To identify submicroscopic interstitial deletions in azoospermia factor (AZF) loci in idiopathic and non-idiopathic cases of male infertility in Indians. METHODS: One hundred and twenty two infertile males with oligozoospermia or azoospermia were included in this study. Semen analysis was done to determine the sperm density, i.e., normospermia (>20 million/mL), oligozoospermia (<20 million/mL) or azoospermia. They were subjected to detailed clinical examination and endocrinological and cytogenetic study. Thirty G-banded metaphases were analyzed in the 122 cases and polymerase chain reaction (PCR) microdeletion analysis was done in 70 cytogenetically normal subjects. For this genomic DNA was extracted using peripheral blood. The STS primers tested in each case were sY84, sY86 (AZFa); sY127, sY134 (AZFb); sY254, sY255 (AZFc). PCR amplifications found to be negative were repeated at least 3 times to confirm the deletion of a given marker. The PCR products were analyzed on a 1.8 % agarose gel. RESULTS: Eight of the 70 cases (11.4 %) showed deletion of at least one of the STS markers. Deletions were detected in cases with known and unknown aetiology with bilateral severe testiculopathy and also in cryptorchid and varicocele subjects. CONCLUSION: AZF microdeletions were seen in both idiopathic and non-idiopathic cases with cryptorchidism and varicocele. The finding of a genetic aetiology in infertile men with varicocele and cryptorchidism suggests the need for molecular screening in non-idiopathic cases. (+info)PCR analysis of Yq microdeletions in infertile males, a study from South India. (8/3144)
AIM: To estimate the frequency of microdeletions in the long arm of Y-chromosome of 20 infertile males from South India. METHODS: Polymerase chain reaction (PCR) amplification using Y-specific STS of azoospermia factor (AZF) regions i.e., SY 84 for AZFa, SY 127 for AZFb and SY 254 for AZFc. RESULTS: Of the 20 infertile subjects 3 (15 %), one azoospermic and two oligozoospermic, showed microdeletions in the AZF region of Y-chromosome. CONCLUSION: The frequency of deletions involving AZF region of the Y-chromosome is 15 % in azoospermic and severely oligozoospermic infertile men. PCR amplification of AZF locus is useful for the diagnosis of microdeletions in the Y-chromosome. (+info)A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer<...
BMIQ14 Gene - GeneCards | BMIQ14 Genetic Locus
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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Identification of new susceptibility loci associated with rheumatoid arthritis. | OnMedica
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Capture Hi-C identifies putative target genes at 33 breast cancer risk loci.
Integrative eQTL-Based Analyses Reveal the Biology of Breast Cancer Risk Loci « Research Papers « Institute for Genomics and...
New susceptibility locus for coronary artery disease on chromosome 3q22.3. - Regicor
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimers disease [Letter] -ORCA
Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human...
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
The genetics of endometriosis. | Base documentaire | BDSP
GenomeRef: December 2013
Dan Chasman, Ph.D. | Harvard Catalyst Profiles | Harvard Catalyst
All News | ALZFORUM
The Origin and Behavior of Mutable Loci in Maize (1950)
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis - UEA Digital Repository
Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata<...
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A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohns disease. | IKMB
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Association analysis identifies 65 new breast cancer risk loci<...
Genome-wide meta-analysis… - Göteborgs universitet
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture<...
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci...
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S0000 | SWOG
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for...
SwePub - Genome-wide association analy...
Sunyaev Lab - Joint Likelihood Mapping (JLIM)
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Search Results
Oncotarget | Overexpression long non-coding RNA LINC00673 is associated with poor prognosis and promotes invasion and...
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Locus Chain Foundation
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Locus heterogeneity
... and allelic heterogeneity are the two components of genetic heterogeneity. Locus heterogeneity may have ... The detection of causal genes for diseases impacted by locus heterogeneity is difficult with genetic analysis methods such as ... Locus heterogeneity occurs when mutations at multiple genomic loci are capable of producing the same phenotype (ie. a single ... Locus heterogeneity should not be confused with allelic heterogeneity, in which a single phenotype can be produced by multiple ...
Replication timing quantitative trait loci
... (or rtQTL) are genetic variations that lead to a differential use of replication ... Koren, A.; Handsaker, R. E.; Kamitaki, N.; Karlić, R.; Ghosh, S.; Polak, P.; Eggan, K.; McCarroll, S. A. (2014). "Genetic ...
Locus Biosciences
"A Genetic 'Chain Saw' to Target Harmful DNA". Wall Street Journal. Archived from the original on March 6, 2018. Retrieved ... Locus received $20 million upfront and up to $798 million in milestones and royalties on net sales. In 2020, the company signed ... Locus develops phage therapies based on CRISPR-Cas3 gene editing technology, as opposed to the more commonly used CRISPR-Case9 ... Locus Biosciences is a clinical-stage pharmaceutical company, founded in 2015 and based in Research Triangle Park, North ...
Expression quantitative trait loci
... statistical genetic methods can be used to map the genetic factors that underpin individual differences in quantitative levels ... Expression quantitative trait loci (eQTLs) are genomic loci that explain variation in expression levels of mRNAs. An expression ... Chromosomal loci that explain variance in expression traits are called eQTLs. eQTLs located near the gene-of-origin (gene which ... December 2017). "Genetic variation and gene expression across multiple tissues and developmental stages in a nonhuman primate ...
Manx cat
"Feline Genetic Loci Table , Cat-World". 4 August 2017. Archived from the original on 15 June 2006. Robinson, R. (1993). " ... Regardless of the genetic and historical reality, there are various fanciful Lamarckian folktales that seek to explain why the ... More will be clear about tail genetics as more genetic studies are done on cat populations and as DNA testing improves; most ... In 2013, prior to initiation of the Manx Cat Genome Project (below), genetic mutations in the brachyury gene were shown to be ...
Splicing quantitative trait loci
April 2016). "RNA splicing is a primary link between genetic variation and disease". Science. 352 (6285): 600-4. Bibcode: ... Splicing quantitative trait loci (abbreviated sQTLs or splicing QTLs) are quantitative trait loci that regulate alternative ... v t e (Articles with short description, Short description matches Wikidata, Quantitative trait loci, All stub articles, ... Wu E, Nance T, Montgomery SB (April 2014). "SplicePlot: a utility for visualizing splicing quantitative trait loci". ...
Familial hemiplegic migraine
With the discovery of causative genes, genetic sequencing can also be used to verify diagnosis (though not all genetic loci are ... Three genetic loci for FHM are known. FHM1, which accounts for about 50% of FHM patients, is caused by mutations in a gene ... These three subtypes do not account for all cases of FHM, suggesting the existence of at least one other locus (FHM4). Also, ... Carrera P, Piatti M, Stenirri S, Grimaldi L, Marchioni E, Curcio M, Righetti P, Ferrari M, Gelfi C (1999). "Genetic ...
Cav1.2
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. Bibcode:2014Natur.511..421S. ... Large-scale genetic analyses have shown the possibility that CACNA1C is associated with bipolar disorder and subsequently also ... "The genetic basis of Brugada syndrome: a mutation update". Human Mutation. 30 (9): 1256-66. doi:10.1002/humu.21066. PMID ...
Stanley Center for Psychiatric Research at Broad Institute
Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014 Jul 24;511(7510):421-7. doi: 10.1038/ ... Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014 Jul 24;511(7510):421-7. doi: 10.1038/ ... The center later launched efforts to collect and sequence genetic samples for such conditions as bipolar disorder, autism ... that identified over 100 regions in the human genome associated with schizophrenia through the genetic analysis of 110,000 ...
KCNV1
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. Bibcode:2014Natur.511..421S. ...
Psychiatric epidemiology
... by quantifying the total contribution of common genetic variants. Furthermore, an increasing number of specific genetic loci ... "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. Bibcode:2014Natur.511..421S. ... In contrast to genetic studies, the investigation of environmental exposures of psychiatric problems face the question of ... These studies began in the 70's and studied the impact of perinatal problems, genetic variants, sexual abuse and other adverse ...
Kenneth L. Davis
"Biological insights from 108 schizophrenia-associated genetic loci." Nature 511.7510 (2014): 421. Cited: 5762 Rosen, Wilma G., ... "Biological Insights From 108 Schizophrenia-Associated Genetic Loci". Nature. 511 (7510): 421-427. Bibcode:2014Natur.511..421S. ...
Voltage-gated calcium channel
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595. ISSN ... Large-scale genetic analyses have shown the possibility that CACNA1C is associated with bipolar disorder and subsequently also ... "The genetic basis of Brugada syndrome: a mutation update". Human Mutation. 30 (9): 1256-66. doi:10.1002/humu.21066. PMID ...
Roan (horse)
Bennett, Dorothy C.; M. Lynn Lamoreux (August 2003). "The Color Loci of Mice - A Genetic Century". Pigment Cell Research. 16 (4 ... Genetic science in the 1970s could not provide a clear answer, as methods of molecular analysis had not yet been developed. The ... The progressive loss of colour in the hair of grey horses is controlled by a dominantly inherited allele at the Grey locus (G^G ... Andersson, L; Sandberg, K (Mar-Apr 1982). "A linkage group composed of three coat color genes and three serum protein loci in ...
Peter McGuffin
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. Bibcode:2014Natur.511..421S. ... "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. Bibcode:2014Natur.511..421S. ... The genetic contribution to self reported events was subsequently confirmed by Robert Power one of McGuffin's PhD students by ... Until the 1990s genetic data on childhood psychiatric disorders were scant. With his then MRC fellow Anita Thapar, McGuffin ...
Ariel Darvasi
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595. ISSN ... The genetic basis of chronic pain. Darvasi, in collaboration with Marshall Devor, studied the genetic basis of chronic pain. ... The Genetic basis of schizophrenia. Adopting experimental strategies he developed, Darvasi discovered one of the strongest ... Along with teaching and research, Darvasi founded IDgene, a biotechnology company that studied the genetic basis of common ...
Michael C. O'Donovan
He was lead author of a 2014 study in Nature which identified over 100 genetic loci associated with an increased risk of ... "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. Bibcode:2014Natur.511..421S. ... Borenstein, Seth (22 July 2014). "Genetic mapping triggers new hope on schizophrenia". The News-Herald. Retrieved 14 December ... O'Donovan, Michael (5 August 2015). "Novel genetic advances in schizophrenia: an interview with Michael O'Donovan". BMC ...
Mechanisms of schizophrenia
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-7. Bibcode:2014Natur.511..421S. ... The largest meta-analysis on copy-number variations (CNVs), structural abnormalities in the form of genetic deletions or ... Oxidative stress has also been indicated through genetic studies into schizophrenia. Oxidative stress has been shown to affect ... Stedehouder J, Kushner SA (January 2017). "Myelination of parvalbumin interneurons: a parsimonious locus of pathophysiological ...
Karen Mohlke
Her research goals include identifying genetic loci responsible for genetic diseases; identifying important locations within ... This study was significant as it was one of the first studies to use exome array genotyping, an alternative to genetic ... "Genetic Variations Cause Diabetes". Medical News Today. 26 December 2012. Retrieved 8 December 2014. "Karen Mohlke, PhD". UNC ... The Mohlke lab is currently identifying genetic variants and genes that influence common human traits with complex inheritance ...
James E. Bowman
Genetic Testing. 4 (2): 207-212. doi:10.1089/10906570050114920. PMID 10953961. James E. Bowman (Autumn 2001). "Genetic Medicine ... ISBN 978-0-8018-5884-0. James E. Bowman (1983). Distribution and Evolution of Hemoglobin and Globin Loci. Proceedings of the ... Bowman published numerous articles and books, including: Books James E. Bowman; Robert F. Murray (1998). Genetic Variation and ... Shaw, Richard F.; Ruth Winter Bloom; James E. Bowman (September 1977). "Hemoglobin and the genetic code: Evolution of ...
Metabotropic glutamate receptor 3
"Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-7. Bibcode:2014Natur.511..421S. ... June 2013). "Genetic association, mutation screening, and functional analysis of a Kozak sequence variant in the metabotropic ...
Locus coeruleus
The locus ceruleus is affected in many forms of neurodegenerative diseases: genetic and idiopathic Parkinson's disease, ... The locus coeruleus (/sɪˈruːliəs/) (LC), also spelled locus caeruleus or locus ceruleus, is a nucleus in the pons of the ... The locus coeruleus is responsible for mediating many of the sympathetic effects during stress. The locus coeruleus is ... Changes in the electrophysiological properties of cells in the locus ceruleus were shown. These Locus Coeruleus cell changes ...
Chronic lymphocytic leukemia
Prognosis can be affected by the type of genetic mutation that the person with CLL has. Some examples of genetic mutations and ... Up until 2020, 45 susceptibility loci have been identified. Of these loci, 93% are linked to the alteration of 30 gene ... Some relevant genetic mutations may be inherited. Since there is no one single mutation that is associated with CLL in all ... The disease most commonly occurs in people over the age of 65, due to the accumulation of genetic mutations that occurs over ...
Developmental bias
Stern, D.L.; Orgogozo, V. (2008). "The Loci of Evolution: How Predictable is Genetic Evolution?". Evolution. 62 (9): 2155-2177 ... The M-matrix describes the potential effects of new mutations on the existing genetic variances and covariances, and these ... These strategically-positioned genes have the potential to filter random genetic variation and translate it to nonrandom ... Schluter, Dolph (1996). "Adaptive Radiation Along Genetic Lines of Least Resistance". Evolution. 50 (5): 1766-1774. doi:10.2307 ...
Genetic variation
... within a population is commonly measured as the percentage of polymorphic gene loci or the percentage of gene ... Genetic diversity Genetic variability Human genetic variation "What is genetic variation?". EMBL-EBI Train online. 2017-06-05. ... "Genetic Variation" in Griffiths, A.J.F. Modern Genetic Analysis, Vol 2., p. 7 "How is Genetic Variation Maintained in ... such as genetic drift, contribute to it, as well. Genetic variation can be identified at many levels. Identifying genetic ...
Takayasu's arteritis
... increasing its number of genetic loci to five risk loci across the genome. About 200,000 genetic variants were genotyped in two ... and the intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). The genetic susceptibility locus in ... A fifth genetic locus for the disease in an intergenic region on chromosome 21q22 downstream of PSMG1 was revealed (P=4.39X10-7 ... a genetic association was identified and confirmed between Takayasu's arteritis and the FCGR2A/FCGR3A locus on chromosome 1 ( ...
CDKN2BAS
August 2010). "A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis ... February 2009). Marchini J (ed.). "Identification of a shared genetic susceptibility locus for coronary heart disease and ... "Identification of 12 genetic loci associated with human healthspan". Communications Biology. 2: 41. doi:10.1038/s42003-019-0290 ... CDKN2B-AS, also known as ANRIL (antisense non-coding RNA in the INK4 locus) is a long non-coding RNA consisting of 19 exons, ...
Psychology
2014). "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. Bibcode:2014Natur.511 ... In contrast, human environments and genetic backgrounds vary so widely, and depend upon so many factors, that it is difficult ... One major result of genetic association studies is the general finding that psychological traits and psychopathology, as well ... Berry, Robert M. (2012). "From Involuntary Sterilization to Genetic Enhancement: The Unsettled Legacy of Buck v. Bell". Notre ...
Selfish genetic element
... the relatedness at the greenbeard locus can be higher than at other loci in the genome. As a consequence, it may in the ... Some selfish genetic elements manipulate the genetic transmission process to their own advantage, and so end up being ... First, sex and outcrossing put selfish genetic elements into new genetic lineages. In contrast, in a highly selfing or asexual ... ISBN 978-0-674-02911-8. Werren JH (June 2011). "Selfish genetic elements, genetic conflict, and evolutionary innovation". ...
Subfields of psychology
2014). "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. Bibcode:2014Natur.511 ... and other omics to measure genetic variants directly. These genetic variants can then be tested for association with behavioral ... This approach to understanding the genetic influences on behavior have seen recent successes in, for example, schizophrenia. ...
Ian A. Graham
"The Genetic Map of Artemisia annua L. Identifies Loci Affecting Yield of the Antimalarial Drug Artemisinin". Science. 327 (5963 ... Characterisation and genetic mapping of traits responsible for production of artemisinin in Artemisia annua has enabled ...
Job interview
The most recent law to be passed is Title II of the Genetic Information Nondiscrimination Act of 2008. In essence, this law ... A longitudinal study of the mediating effects of interviewing self-efficacy and the moderating effects of internal locus of ... or genetic information (note: additional classes may be protected depending on state or local law). More specifically, an ... prohibits the discrimination of employees or applicants due to an individual's genetic information and family medical history ...
CLINT1
"Replication of genetic association studies between markers at the Epsin 4 gene locus and schizophrenia in two Han Chinese ... Liou YJ, Lai IC, Wang YC, Bai YM, Lin CC, Lin CY, Chen TT, Chen JY (June 2006). "Genetic analysis of the human ENTH (Epsin 4) ... The CLINT1 gene has been shown to be involved in the genetic aetiology of schizophrenia in four studies It is known that the ... is involved in the genetic susceptibility to schizophrenia". Am. J. Hum. Genet. 76 (5): 902-7. doi:10.1086/430095. PMC 1199380 ...
SLC2A13
"Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease". Nature ...
Genomic imprinting
A single locus will entirely produce one's phenotype although two alleles are inherited. This genotype class is called parental ... The first imprinted genetic disorders to be described in humans were the reciprocally inherited Prader-Willi syndrome and ... Underdominance of the locus is another possibility of phenotypic expression. Both maternal and paternal phenotypes will have a ... When a locus is identified as imprinted, two different classes express different alleles. Inherited imprinted genes of ...
Sex determination in Silene
Several studies concentrated on Silene latifolia have shown a correlation between loci on the Y chromosome and the sex that is ... For example, there are two genetic variations that can lead to male sterility in S. latifolia: if it possesses two Y ... leaving most of the genetic material in the Y chromosome intact. ...
Endless Forms Most Beautiful (book)
... coli to Elephants This chapter tells the tale of the genetic code, and the lac operon, showing that the environment and genetic ... is the locus of evolution" dates back to Roy Britten and colleagues around 1970, but was still weakly supported by observation ... Evidently, a genetic switch could be reused for different purposes. 9. Paint It Black Carroll looks at zebra stripes, ... Most of the changes are in genetic control, not in proteins. 11. Endless Forms Most Beautiful Carroll concludes by revisiting ...
Genome size
As much as 90% of the genetic material can be lost when a species makes the evolutionary transition from a free-living to an ... "Decay of mutualistic potential in aphid endosymbionts through silencing of biosynthetic loci: Buchnera of Diuraphis". ... This process seems to be dominated by genetic drift resulting from small population size, low recombination rates, and high ... Wernegreen, J. J.; Moran, N. A. (1999-01-01). "Evidence for genetic drift in endosymbionts (Buchnera): analyses of protein- ...
HLA-A36
For A36, the alpha "A" chain are encoded by the HLA-A*36 allele group and the β-chain are encoded by B2M locus. This group ... Arce-Gomez B, Jones EA, Barnstable CJ, Solomon E, Bodmer WF (February 1978). "The genetic control of HLA-A and B antigens in ... 2001). "HLA class I in three West African ethnic groups: genetic distances from sub-Saharan and Caucasoid populations". Tissue ...
Transgenerational stress inheritance
Small non-coding RNAs may serve as a potential mechanism for stress-related genetic changes in offspring. Mouse models of ... Early life experiences and environmental factors may lead to epigenetic modification at specific gene loci, leading to altered ... Epigenetic modification in response to stress results in molecular and genetic alterations that in turn results in mis- ...
MiR-137
2011). "Genome-wide association study identifies five new schizophrenia loci". Nature Genetics. 43 (10): 969-76. doi:10.1038/ng ... Cross-Disorder Group of the Psychiatric Genomics Consortium; Genetic Risk Outcome of Psychosis (GROUP) Consortium (2013). " ... "Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis". The Lancet. 381 ( ...
RK2 plasmid
C M Thomas, and C A Smith: "Incompatibility Group P Plasmids: Genetics, Evolution, and Use in Genetic Manipulation", Annual ... and regulation of two operons that constitute the kilE locus.", J Bacteriol. 1993 August; 175(16): 5078-5090. ROSS H. DURLAND, ... An increase in copy number is useful for genetic engineering applications to increase the production yield of recombinant ... which makes it suitable as a genetic engineering tool. It is capable of transfer, replication, and maintenance in most genera ...
CDC73
Hobbs MR, Rosen IB, Jackson CE (2002). "Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2". Am. ... 2004). "Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications". J. Med. Genet. 41 ... locus". Genomics. 73 (2): 211-22. doi:10.1006/geno.2001.6500. PMID 11318611. Carpten JD, Robbins CM, Villablanca A, Forsberg L ... locus". Genomics. 73 (2): 211-22. doi:10.1006/geno.2001.6500. PMID 11318611. ...
Taxonomy of lemurs
... multiple genetic loci reveal low levels of species diversity in the genus Cheirogaleus". BMC Evolutionary Biology. 9: 30. doi: ... Genetic research does not support a close relationship between the sportive and koala lemurs and instead places the koala ... Genetic and morphological differences seem to suggest that they are cryptic species, but there is still debate whether these ... Genetic analysis of this relationship has also clarified lemur phylogeny and supports the hypothesis that lemurs rafted to ...
Islam in India
"Diverse genetic origin of Indian Muslims: evidence from autosomal STR loci". Nature. 54 (6): 340-348. doi:10.1038/jhg.2009.38. ... Genetic data has also supported this stratification. In three genetic studies representing the whole of South Asian Muslims, it ... In two of the three genetic studies referenced here, in which is described that samples were taken from several regions of ... In this study 124 Sunnis and 154 Shias of Uttar Pradesh were randomly selected for their genetic evaluation. Other than Muslims ...
HLA-A30
For A30, the alpha "A" chain are encoded by the HLA-A*30 allele group and the β-chain are encoded by B2M locus. A30 and A*30 ... A*3002 alters Type 1 diabetes risk Arce-Gomez B, Jones EA, Barnstable CJ, Solomon E, Bodmer WF (February 1978). "The genetic ... Noble J, Valdes A, Bugawan T, Apple R, Thomson G, Erlich H (2002). "The HLA class I A locus affects susceptibility to type 1 ...
Sexual anomalies
These genetic abnormalities occur during the prenatal stage of an individuals' fetal development. During this stage, genetic ... "Disorders of Sex Development Loci☆". Disorders of Sex Development Loci. Elsevier. doi:10.1016/B978-0-12-809633-8.06552-3. ISBN ... Genetic abnormalities or environmental factors that influence these procedures may lead to the incomplete development of the ... Sexual anomalies often generate from genetic abnormalities caused by many factors, leading to different sexual development. ...
Bruce Boston
18, 2013) The Locus Index to SF Awards: Asimov's Reader Poll Records and Tallies Archived May 17, 2008, at the Wayback Machine ... Talisman, 1998 The Lesions of Genetic Sin. Miniature Sun, 2000 In Far Pale Clarity. Quixsilver, 2002 The Crow Is Dismantled in ... 18, 2013). Locus Online News, Bruce Boston Joins World Horror Guests of Honor, 10 July 20, 2012 (accessed Sept. 18 2013) World ... His collaborative poem with Robert Frazier, "Return to the Mutant Rain Forest," received first place in the 2006 Locus Online ...
CYP2B6
Elens L, Vandercam B, Yombi JC, Lison D, Wallemacq P, Haufroid V (September 2010). "Influence of host genetic factors on ... "An approach based on a genome-wide association study reveals candidate loci for narcolepsy". Human Genetics. 128 (4): 433-41. ... and CYP2B6 genetic polymorphisms on the induction of bupropion hydroxylation by rifampin". Drug Metabolism and Disposition. 39 ...
Genetic studies on Serbs
"Genetic characterization of 27 Y-STR loci with the Yfiler® Plus kit in the population of Serbia". Forensic Science ... 2015) Origin hypotheses of the Serbs Genetic studies on Croats Genetic studies on Bosniaks Genetic studies on Bulgarians Y-DNA ... September 2011). "Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity". ... This distinction could be explained by a genetic contribution of pre-Slavic Balkan populations to the genetic heritage of some ...
Explanatory style
Furnham, A.; H. Steele (1993). "Measuring locus of control: a critique of general, children's health and work related locus of ... supporting models in which these styles have distinct genetic and environmental origins. Attributional style is, at least ... However, the locus of control is concerned with expectancies about the future while attribution style is concerned with ... Whereas locus of control cuts across both positive and negative outcomes, authors in the attributional style field have ...
PDCD10
Guclu B, Ozturk AK, Pricola KL, Seker A, Ozek M, Gunel M (Nov 2005). "Cerebral venous malformations have distinct genetic ... "Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and ... a clinical and genetic study". Archives of Ophthalmology. 124 (6): 885-6. doi:10.1001/archopht.124.6.885. PMID 16769843. Chen ... potential for a fourth CCM locus". Human Mutation. 27 (1): 118. doi:10.1002/humu.9389. PMID 16329096. S2CID 30609244. Verlaan ...
Uteroglobin
Hay JG, Danel C, Chu CS, Crystal RG (1995). "Human CC10 gene expression in airway epithelium and subchromosomal locus suggest ... However contrary to the animal model claims, human genetic data might suggest that the effect may be indirect Uteroglobin ...
CD96
April 2010). "New genetic associations detected in a host response study to hepatitis B vaccine". Genes and Immunity. 11 (3): ... It may also function in antigen presentation[citation needed]. Alternative splicing occurs at this locus and two transcript ...
PM20D1
Methylation at or near the PM20D1 locus has been correlated to body mass index. In humans, the PM20D1 locus has been associated ... Genetic elevation of circulating PM20D1 in mice leads to accumulation of multiple circulating N-acyl amino acid species and a ... May 2018). "PM20D1 is a quantitative trait locus associated with Alzheimer's disease". Nature Medicine. 24 (5): 598-603. doi: ...
Computational audiology
... predict depression based on self-reported hearing loss or the relation between genetic profile and self-reported hearing loss. ... "Genome-wide association study identifies 44 independent genomic loci for self-reported adult hearing difficulty in the UK ...
Brolga
Miller, Adam; Veltheim, Inka; Nevard, Timothy; Ming Gan, Han; Haase, Martin (2019). "Microsatellite loci and the complete ... and a preliminary assessment of population genetic structure for the Australian crane, Antigone rubicunda". Avian Biology ... Miller, A. (2016). The development of microsatellite loci through next generation sequencing, and a preliminary assessment of ... population genetic structure for the iconic Australian crane, Brolga (Antigone rubicunda). Nature Glenelg Trust, Warrnambool, ...
Short interspersed nuclear element
In conclusion, though not much is known about the role and mechanism by which SINEs generate miRNA gene loci it is generally ... The activity of SINEs however has genetic vestiges which do not seem to play a significant role, positive or negative, and ... The distribution of SINEs to genes was significantly more similar than that of other non-coding genetic elements and even ... SINEs are also implicated in certain types of genetic disease in humans and other eukaryotes. In essence, short interspersed ...
Small population size
... resulting in the loss of the other allele at that locus (in the case of a two allele locus) and an overall loss of genetic ... Genetic drift: Genetic variation is determined by the joint action of natural selection and genetic drift (chance). In small ... Conservationists are often worried about a loss of genetic variation in small populations. There are two types of genetic ... Decline in amphibian populations Founder effect Functional extinction Gene pool Genetic erosion Genetic pollution Minimum ...
Neanderthal-derived genetic locus influences COVID-19 severity in humans
... four genetic variants on a chromosome 3 haplotype that may be responsible for driving the association between this locus and ... Neanderthal-derived genetic locus influences COVID-19 severity in humans. *Download PDF Copy ... 2021, June 15). Neanderthal-derived genetic locus influences COVID-19 severity in humans. News-Medical. Retrieved on December ... Genetic, Genomics, Locus, Neanderthal, Receptor, Reporter Gene, Research, Respiratory, SARS, SARS-CoV-2, Severe Acute ...
Molecular Genetic Data at Two Tetranucleotide Repeat Loci (D12S66 and D12S67) in Two Indian Tribal Populations
Molecular genetic polymorphism study was undertaken in two tribal population groups of India at two tetranucleotide repeat loci ... Molecular Genetic Data at Two Tetranucleotide Repeat Loci (D12S66 and D12S67) in Two Indian Tribal Populations. ... Molecular genetic polymorphism study was undertaken in two tribal population groups of India at two tetranucleotide repeat loci ... For this study, 75 random, unrelated individuals were analyzed for D12S66 locus, whereas 76 individuals were analyzed for ...
The advantage of recombination when selection is acting at many genetic Loci - NASA/ADS
... where L is the number of loci. As the value of p approaches unity at the selected loci, the number of favorable alleles per ... Given recombination, if the average frequency of the favored alleles at the various selected loci is equal to p, then the ... Consequently, a finite population - even a very large population - contains only a small sample of all possible multi-locus ... But as the number of polymorphic loci increases linearly, the number of possible genotypic combinations increases exponentially ...
Genetic control of the immune response: Mapping of the IR-1 locus - Penn State
Genetic control of the immune response: Mapping of the IR-1 locus. Journal of Experimental Medicine. 1972 Jun 1;135(6):1259- ... Genetic control of the immune response : Mapping of the IR-1 locus. In: Journal of Experimental Medicine. 1972 ; Vol. 135, No. ... Genetic control of the immune response : Mapping of the IR-1 locus. / McDevitt, Hugh O.; Deak, Beverly D.; Shreffler, Donald C ... title = "Genetic control of the immune response: Mapping of the IR-1 locus", ...
Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult...
Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult ... Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult ... 14 This analysis first calculates the genetic variance (heritability) of each category and then calculates the genetic ... Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease. Nat Genet 2015;47:577-8. doi: ...
Genetic analysis of early phenology in lentil identifies distinct loci controlling component traits - Open Access Repository
Genetic analysis of early phenology in lentil identifies distinct loci controlling component traits ... ORCID: 0000-0003-2423-8286 2022 , Genetic analysis of early phenology in lentil identifies distinct loci controlling component ... Genetic analysis of early phenology in lentil identifies distinct loci controlling component traits, Journal of Experimental ... We identified two loci, DTF6a and DTF6b, at which dominant alleles confer early flowering, and we show that DTF6a alone is ...
Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. | Journal of...
Genetic refinement of a BiCHM locus. A physical map of the BiCHM 19q13.4 candidate locus was assembled from the NCBI databases. ... We report the genetic refinement of a BiCHM locus to an approximately 1.1 Mb physical contig of 19q13.4 and establish a ... Moglabey YB, Kircheisen R, Seoud M, El Mogharbel N, Van den Veyver I, Slim R. Genetic mapping of a maternal locus responsible ... Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. ...
RePub, Erasmus University Repository:
Multiple genetic loci influence serum urate levels and their relationship with gout and...
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. ... Yang, Q, Köttgen, A, Dehghan, A, Smith, A.V, Glazer, N.L, Chen, M-H, … Coresh, J. (2010). Multiple genetic loci influence serum ... We performed a genome-wide association study to search for genetic susceptibility loci for serum urate and gout and ... Findings were replicated in the Womens Genome Health Study (n=22 054). Single-nucleotide polymorphisms at 8 genetic loci ...
Biological insights from 108 schizophrenia-associated genetic loci. - Nuffield Department of Medicine
We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of ... Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by ... Alleles, Brain, Enhancer Elements, Genetic, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, ... Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by ...
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. - Nuffield Department of Population...
We refined the peak of association to a single gene for 19 loci, identified secondary independent effects at 6 loci and ... Bioinformatic analyses generated strong hypotheses for the causal SNP at seven loci. This study illustrates the advantages of ... We identified 14 new susceptibility loci, 9 of which were associated with rheumatoid arthritis overall and five of which were ... bringing the number of confirmed rheumatoid arthritis risk loci in individuals of European ancestry to 46. ...
Genetic markers for the full suite of disease resistance loci of peanut to accelerate breeding for disease resistance traits ...
Characterizations of Enterocytozoon bieneusi at new genetic loci reveal a lack of strict host specificity among common...
Genetic characterizations of these and lots of divergent E. bieneusi genotypes at different genetic loci are up to now ... In distinction, genotypes in Teams 1 and a pair of produced comparable nucleotide sequences at these genetic loci, and there ... Sequence analyses of the ck1 and swp1 loci confirmed the genetic uniqueness of Group 11 genotypes, which produced sequences ... Characterizations of Enterocytozoon bieneusi at new genetic loci reveal a lack of strict host specificity among common ...
Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder...
A susceptibility locus for bipolar affective disorder has been mapped to chromosome 4q35 in a large multigenerational pedigree ... A susceptibility locus for bipolar affective disorder has been mapped to chromosome 4q35 in a large multigenerational pedigree ... Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder ... Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder ...
Targeted approach to identify genetic loci associated with evolved dioxin tolerance in Atlantic Killifish (Fundulus...
Multiple tolerant and neighboring sensitive killifish populations were compared with the expectation that genetic loci ... Similar to other killifish population genetic analyses, strong genetic differentiation among populations was detected, ... The genetic patterns reported here lend support to the argument that AHR2 and CYP1A play a role in the adaptive response to ... In addition, significant shifts in minor allele frequency were observed at AHR2 and CYP1A loci across most sensitive/tolerant ...
Arthritis News : Novel Genetic Susceptibility Locus for Rheumatoid Arthritis, TRAF1-C5, Identified from a Genome-Wide...
Novel Genetic Susceptibility Locus for Rheumatoid Arthritis identified from a Genome-Wide Association Study. November 12, 2007 ... While these genes convey a relatively large degree of risk, identifying important genetic loci that convey more modest levels ... Novel Genetic Susceptibility Locus for Rheumatoid Arthritis identified from a Genome-Wide Association Study ... This same SNP was identified as a major risk locus in the replication scan using tagging SNPs in the TRAF1-C5 region and was ...
Genetic susceptibility variants for lung cancer: Replication study and assessment as expression quantitative trait loci<...
Genetic susceptibility variants for lung cancer: Replication study and assessment as expression quantitative trait loci. ... Genetic susceptibility variants for lung cancer : Replication study and assessment as expression quantitative trait loci. In: ... Genetic susceptibility variants for lung cancer : Replication study and assessment as expression quantitative trait loci. / ... Genetic susceptibility variants for lung cancer: Replication study and assessment as expression quantitative trait loci. ...
Risk variants of the α-synuclein locus and REM sleep behavior disorder in Parkinson's disease: a genetic association study |...
... gene loci in 325 Parkinsons disease patients. Associations between genetic risk variants and RBD were investigated by logistic ... dichotomous clinical feature of Parkinsons disease can be linked to a specific genetic susceptibility profile. Indirectly, it ... Parkinsons disease is a heterogeneous disorder where genetic factors may underlie clinical variability. Rapid eye movement ... From: Risk variants of the α-synuclein locus and REM sleep behavior disorder in Parkinsons disease: a genetic association ...
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. - Oxford Big Data...
We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. Credible sets of the ... Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which ... loci in 27,206 cases and 57,574 controls of European ancestry. ... Genetic fine mapping and genomic annotation defines causal ... Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. ...
Association Analysis of Driver Gene-Related Genetic Variants Identified Novel Lung Cancer Susceptibility Loci with 20,871 Lung...
Wang et al Association analysis of driver-gene related genetic variants identified novel lung cancer susceptibility loci with ... Association Analysis of Driver Gene-Related Genetic Variants Identified Novel Lung Cancer Susceptibility Loci with 20,871 Lung ... Association Analysis of Driver Gene-Related Genetic Variants Identified Novel Lung Cancer Susceptibility Loci with 20,871 Lung ... Among these loci, rs78062588 in TPM3 (1q21.3) was a new lung cancer susceptibility locus (OR = 0.86, P = 1.65 × 10-6). Subgroup ...
Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic...
We conducted a cross-ancestry GWAS in ALS including 29,612 ALS patients and 122,656 controls which identified 15 risk loci in ... Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic ... analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, repeat ... ALS associated risk loci were shared with multiple traits within the neurodegenerative spectrum, but with distinct enrichment ...
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk - Wellcome Centre...
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk ... Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk ... Report , Future Forum, young peoples attitudes to COVID, genetic research, and medical data ...
Genetic disequilibria between the αS1-, β-, κ-casein and the β-lactoglobulin loci of the Bavarian Brown and Bavarian...
Genetic disequilibria between the αS1-, β-, κ-casein and the β-lactoglobulin loci of the Bavarian Brown and Bavarian Simmental ... Different rates of synthesis of whey protein and casein by alleles of the β-lactoglobulin and αs1-casein locus in cattle Genet ... Study on milk proteins loci in some decreasing Italian cattle breeds Genet. Sel. Evol. 14, 17-28 (1982). ... Linkage disequilibrium between enzymatic loci in natural populations of Drosophila simulans Genet. Sel. Evol. 20, 1-14 (1988). ...
Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci...
These findings point to familial MG as a separate genetic entity. Identification of the underlying genetic defect in this ... Genetic characterisation of this unique Hungarian family using linkage analysis and mutation screening excludes the involvement ... We present here the genetic analysis of a Hungarian family where nine members from two generations are affected by myasthenia ... Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci ...
Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal...
Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function | Nature Communications
Here, in a multiethnic GWAS meta-analysis for pulmonary function traits, the authors identify over 50 additional genetic loci, ... We identify over 50 additional loci at genome-wide significance in ancestry-specific or multiethnic meta-analyses. Using recent ... we further shed light on potential causal variants and genes at known and newly identified loci. Several of the novel genes ... Nearly 100 loci have been identified for pulmonary function, almost exclusively in studies of European ancestry populations. We ...
Lung cancer risk and genetic polymorphism at the glutathione S-transferase P1 locus in male Japanese<...
Lung cancer risk and genetic polymorphism at the glutathione S-transferase P1 locus in male Japanese. / Yamamura, K.; Kiyohara ... Lung cancer risk and genetic polymorphism at the glutathione S-transferase P1 locus in male Japanese. In: Fukuoka igaku zasshi ... Dive into the research topics of Lung cancer risk and genetic polymorphism at the glutathione S-transferase P1 locus in male ... title = "Lung cancer risk and genetic polymorphism at the glutathione S-transferase P1 locus in male Japanese", ...
proportion of polymorphic loci: proportion of polymorphic alleles as subclonal in SingerLab/gac: Genetic Analysis of Cells
proportion_of_polymorphic_loci: proportion of polymorphic alleles as subclonal In SingerLab/gac: Genetic Analysis of Cells ... Estimate genome-wide proportion of polymorphic loci in a population Usage. proportion_of_polymorphic_loci( cnr, exclude.chr = c ... avg_num_alleles_per_locus: Estimate the estimated number of alleles (copies) per locus ... proportion_of_polymorphic_loci. R Documentation. proportion of polymorphic alleles as subclonal. Description. ...
Genetic characterisation of the Theileria annulata cytochrome b locus and its impact on buparvaquone resistance in bovine -...
Genetic characterisation of the Theileria annulata cytochrome b locus and its impact on buparvaquone resistance in bovine ... First, we investigated genetic characteristics of the cytochrome b locus associated with buparvaquone resistance in 10 ... Genetic characterisation of the Theileria annulata cytochrome b locus and its impact on buparvaquone resistance in bovine , ...
Genes | Free Full-Text | Transitions from Single- to Multi-Locus Processes during Speciation with Gene Flow
For the parameter combinations we explored, as the per-locus strength of selection grew and/or migration decreased, it became ... The statistical characteristics of within-deme LD—likely indicative of the strength of coupling of barrier loci— ... as strong coupling of multiple loci creates a barrier to gene flow. Testing predictions about such transitions with empirical ... in the empirical data and in our simulations suggest that selection drives rapid genome-wide transitions to multi-locus ...
GenesAllelesSusceptibility locusChromosomeVariantsMulti-locusGeneExpression quantitative traiAnalysesQuantitativeIdentifiesPolymorphicPolymorphismsGWASTraitsGenotypesGenomicPolymorphismGeneticsRheumatoid arthritisMarkersCausalDiseasePopulationsVariationRecombinationReplicationGenome-wide significantDifferentiationSNPsDeterminantsStrainsSequenceMutationsDistinctGenotypeAutosomal recessiveMicrosatelliteStudyPathwaysVariantAlleleFindingsAnalysisAssociationSignificanceChromosomesInflammatoryLinkage groupsBiologicalCongenicCytochromeDifferencesIdentify
Genes25
- 11 These two studies show that the BiCHM gene is associated with a loss of maternal imprints within the ovum, which is not limited to one locus, as is the case with other genes that regulate imprinting in cis . (bmj.com)
- While these genes convey a relatively large degree of risk, identifying important genetic loci that convey more modest levels of risk have been a challenge due to the limitations of genetic research methods. (hopkinsarthritis.org)
- When combined with 8,953 whole-genome sequenced individuals (6,538 ALS patients, 2,415 controls) and the largest cortex-derived eQTL dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, repeat expansions or regulatory effects. (researchsquare.com)
- Using recent fine-mapping methods incorporating functional annotation, gene expression, and differences in linkage disequilibrium between ethnicities, we further shed light on potential causal variants and genes at known and newly identified loci. (nature.com)
- We found 107 independent loci associated with intelligence, implicating 233 genes, using both SNP-based and gene-based GWAS. (biorxiv.org)
- Genetic mapping of susceptibility loci in the genes involved in rheumatoid arthritis. (ox.ac.uk)
- In addition to validating the European American risk loci with data from the UK Biobank project, the researchers performed follow-up analyses based on genes, expression quantitative trait loci, tissue enrichment, or cell-type enrichment, demonstrating that the risk variants found in the European Americans fell in and around CRHR1 and other genes related to corticosteroid and steroid hormone pathways. (genomeweb.com)
- Genetic factors appear to contribute to PTSD, the team explained, and small studies published previously have hinted at some of the loci and genes that might be involved in the condition, which poses a particular concern for individuals who have served in the military. (genomeweb.com)
- Dystocia is likely to have a genetic component with variations in multiple genes affecting the patient outcome. (scilifelab.se)
- Click "Gene Ontology Details" to view all GO information and evidence for this locus as well as biological processes it shares with other genes. (yeastgenome.org)
- Interaction annotations are curated by BioGRID and include physical or genetic interactions observed between at least two genes. (yeastgenome.org)
- This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. (nih.gov)
- Kumari Kumkum, Kumar Pankaj, Sharma Vinay K., Singh Santosh K.. Genomic marker assisted identification of genetic loci and genes associated with variation of grain zinc concentration in rice. (who.int)
- A study was conducted to examine the genetic divergence and to determine the genetic loci and genes associated with natural variation of grain zinc (Zn) concentration among 28 landraces, improved varieties and advanced breeding lines of rice using candidate gene specific primers. (who.int)
- Molecular analysis based on candidate genes specific primers appeared to be an efficient approach for the elucidation of genetic differentiation and divergence in relation to variation of grain Zn concentration among entries. (who.int)
- Genetics is the study of genes , heredity , and the variation of organisms , as well as the medical practice of diagnosing, treating, and counseling patients with genetic disorders . (wikipedia.org)
- To unveil the inherited genetic variants that cause LC, we performed focused exome-sequencing analyses on genes located in 121 genome-wide association study-identified loci previously implicated in the risk of LC, chronic obstructive pulmonary disease, pulmonary function level, and smoking behavior. (cdc.gov)
- The discovery that CRISPR-Cas9 could be harnessed and used to edit animal and human genes ushered in a new era of genetic research over the past several years. (the-scientist.com)
- A large-scale biobank-based study performed in Finland has discovered several new disease genes as well as new insights on how known genetic factors affect disease. (medicalxpress.com)
- We hypothesized that multiple genetic and environmental factors influence susceptibility to this disease and sought to identify susceptibility genes to better understand its pathogenesis. (ox.ac.uk)
- The fact that six of these nine loci harbor genes encoding proteins in the Wnt-signaling pathway suggests that aberrations in this pathway are key to the process of fibromatosis in Dupuytren's disease. (ox.ac.uk)
- Initial gene expression data in subcutaneous adipose tissue from METSIM participants identified expression quantitative trait loci (eQTLs) coincident with GWAS signals that suggest new candidate genes at dozens of loci. (grantome.com)
- A more thorough understanding of genetic influences on subcutaneous adipose expression variation would identify additional target genes, especially for insulin resistance traits including waist-hip ratio (WHR), lipids, and T2D. (grantome.com)
- Over twenty susceptibility loci linked to diabetes have been identified in NOD mice and progress has been made in the definition of candidate genes at many of these loci (termed Idd for insulin-dependent diabetes). (researcher-app.com)
- Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
Alleles15
- ospA alleles ( 7 ) and IGS2 loci were likewise the rrs and rrlA rDNA, here called IGS1. (cdc.gov)
- Now, Terence Capellini and colleagues have identified four introgressed alleles that are strong functional candidates for driving the association between this locus and severe COVID-19. (news-medical.net)
- Finally, the researchers intersected these 20 alleles with a host of molecular and phenotypic datasets, which ultimately identified four introgressed alleles that showed the strongest evidence of driving the association between this locus and severe COVID-19. (news-medical.net)
- The researchers say that while the study provides strong functional support for at least four archaic variants at the introgressed locus, the direction of the effect of these alleles in both the healthy and infected state needs further clarification. (news-medical.net)
- Specifically, high-fitness genotypes are expected to be absent from the initial population when the frequencies of favorable alleles at the selected loci are low. (harvard.edu)
- Given recombination, if the average frequency of the favored alleles at the various selected loci is equal to p, then the expected number of favorable alleles per chromosome will be equal to pL, where L is the number of loci. (harvard.edu)
- As the value of p approaches unity at the selected loci, the number of favorable alleles per chromosome will approach a value of L, i.e., at the end of the selection process a favorable allele will be found at all loci. (harvard.edu)
- We identified two loci, DTF6a and DTF6b, at which dominant alleles confer early flowering, and we show that DTF6a alone is sufficient to confer early flowering under extremely short photoperiods. (edu.au)
- Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. (ox.ac.uk)
- Analyses of the Genetic Polymorphisms rs3740199 and rs1871054 of the ADAM12 Gene and the Alleles at the rs2073508 Loci of the TGFB1 Gene and Their Contribution to Susceptibility to Primary Knee Osteoarthritis. (uadec.mx)
- Signals in human leukocyte antigen (HLA) class II region dominated the landscape of viral antibody response, with 40 independent loci and 14 independent classical alleles, 7 of which exhibited pleiotropic effects across viral families. (medrxiv.org)
- Here, we took advantage of multiple NOD mouse strains congenic for Idd loci to test the role of these Idd loci the development of neuropathy and determine if B6 alleles at Idd loci that are protective for diabetes will also be for neuropathy. (researcher-app.com)
- The hybrid crosses were dissected into their allele constitution and the effects of alleles and genotypic values of single locus were estimated. (chinacrops.org)
- Among the 38 loci associated with hybrid yield, nine elite loci such as Satt449, Satt233 and Satt631 and nine elite alleles such as Satt449-A311, Satt233-A217 and Satt631-A152 were identified. (chinacrops.org)
- Analysis of Loci and Alleles Associated with Hybrid Yield in Soybean[J]. Acta Agron Sin, 2011, 37(01): 48-57. (chinacrops.org)
Susceptibility locus5
- A susceptibility locus for bipolar affective disorder has been mapped to chromosome 4q35 in a large multigenerational pedigree. (garvan.org.au)
- Among these loci, rs78062588 in TPM3 (1q21.3) was a new lung cancer susceptibility locus (OR = 0.86, P = 1.65 × 10-6). (liverpool.ac.uk)
- Plasma fetuin-A is associated with type 2 diabetes, and AHSG, the gene encoding fetuin-A, has been identified as a susceptibility locus for diabetes and metabolic syndrome. (uthscsa.edu)
- With these data, we identified a susceptibility locus near TIMP3 (overall P = 1.1 x 10 -11 ), a metalloproteinase involved in degradation of the extracellular matrix and previously implicated in early-onset maculopathy. (elsevier.com)
- Findings indicate a 3p21.31 gene cluster as a genetic susceptibility locus in patients with COVID-19 with respiratory failure and confirmed a potential involvement of the ABO blood-group system. (who.int)
Chromosome11
- Researchers in the United States and Estonia have identified four genetic variants on a chromosome 3 haplotype that may be responsible for driving the association between this locus and the severity of coronavirus disease 2019 (COVID-19). (news-medical.net)
- Previous research identified a genetic haplotype on chromosome 3 that entered the human population via introgression from Neanderthals as the strongest genetic risk factor for severe COVID-19. (news-medical.net)
- Molecular genetic polymorphism study was undertaken in two tribal population groups of India at two tetranucleotide repeat loci on chromosome 12 (D12S66 and D12S67). (astm.org)
- Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. (bmj.com)
- Ongoing work includes integration of information to allow navigation via comparative genomics from genetics loci to chromosome, and development of crop genetics databases. (edu.au)
- They are evenly distributed in the genome, so they are widely used in genetic cross breeding and mapping markers of chromosome genetic map. (digglicious.com)
- The seven chromosome scaffolds were anchored to a previously published genetic linkage map with a high degree of synteny and comparisons to genomes of closely related species within the Rosoideae revealed chromosome-scale rearrangements that have occurred over relatively short evolutionary periods. (nibio.no)
- 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. (bvsalud.org)
- For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. (bvsalud.org)
- Variation in the HTRA1/ARMS2 locus on chromosome 10 has been convincingly associated with AMD, with an effect size similar to or greater than that seen with CFH . (medscape.com)
- The disorder is associated with a genetic locus on chromosome 2 and transmission is autosomal recessive. (cdc.gov)
Variants16
- We refined the peak of association to a single gene for 19 loci, identified secondary independent effects at 6 loci and identified association to low-frequency variants at 4 loci. (ox.ac.uk)
- Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease. (ox.ac.uk)
- However, the associations between genetic variants in lung CDGs and the susceptibility to lung cancer have rarely been investigated. (liverpool.ac.uk)
- CONCLUSIONS:Genetic variants can regulate functions of lung CDGs and influence lung cancer susceptibility. (liverpool.ac.uk)
- 4 Heritability estimates derived using molecular genetic data using the GREML-SC 5 , 6 method, indicate that around 20-30% of variation can be explained by variants in linkage disequilibrium with genotyped single nucleotide polymorphisms (SNPs). (biorxiv.org)
- Analyses conditioned on rs4917 indicated that the strong association with the AHSG locus stems from additional independent associations of multiple variants among European Americans. (uthscsa.edu)
- In their analysis, the scientists found genetic variants that previous research had already linked with obesity. (medicalnewstoday.com)
- Replication studies identify several genetic variants in Arabs with obesity-linked diabetes. (who.int)
- These are the first common genetic variants associated with this type of cancer. (who.int)
- Genetic variants associated with development of TMD and its intermediate phenotypes: the genetic architecture of TMD in the OPPERA prospective cohort study. (cdc.gov)
- Genome-wide association studies (GWAS) have successfully identified genetic variants associated with common, complex diseases and quantitative traits. (grantome.com)
- Age-related macular degeneration (AMD) is a common polygenic disease in which multiple genetic variants, as well as environmental and lifestyle factors, contribute to disease risk, each adding a small to moderate amount of increased risk. (medscape.com)
- Several genetic variants have been consistently associated with AMD. (medscape.com)
- Rare genetic variants in the complement system have also been found to play an important role in AMD. (medscape.com)
- The International AMD Genomics Consortium discovered a total of 52 genetic variants that are associated with AMD. (medscape.com)
- These variants are located among 34 loci. (medscape.com)
Multi-locus8
- Consequently, a finite population - even a very large population - contains only a small sample of all possible multi-locus genotypes. (harvard.edu)
- We show that the generation of new genotypic combinations through recombination is an important component of adaptive evolution based on multi-locus selection. (harvard.edu)
- Consequently, recombination acts to unblock the adaptive response to multi-locus selection in finite populations. (harvard.edu)
- For this, multi-locus genotyping of beta-giardin, triose phosphate isomerase, and glutamate dehydrogenase and genotyping of SSU rDNA gene fragments had been carried out. (iowaodes.com)
- When DLC-sensitive populations were pooled and compared to pooled DLC-tolerant populations, multi-locus analyses did not distinguish the two groups. (biomedcentral.com)
- 2008). Molecular systematics of South American dolphins Sotalia: sister taxa determination and phylogenetic relationships, with insights into a multi-locus phylogeny of the Delphinidae . (oregonstate.edu)
- The multi-locus sequence type, presence of antimicrobial resistance (AMR) determinants, and relatedness between the isolates were derived from the sequence data. (who.int)
- The population of P. aeruginosa in the Philippines was diverse, with clonal expansions of XDR genomes belonging to multi-locus sequence types ST235, ST244, ST309, and ST773. (who.int)
Gene17
- To address this issue, a targeted, candidate gene scan was performed to reveal genetic variation associated with tolerance in four wild DLC-adapted killifish populations. (biomedcentral.com)
- Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci. (ox.ac.uk)
- Genetic characterisation of this unique Hungarian family using linkage analysis and mutation screening excludes the involvement of defined candidate gene loci. (ox.ac.uk)
- Analysis of the adiponectin gene resulted in the determination that within the South African cohort, the G-11391A locus and the 11/12 haplotype combination were associated with protection towards T2D. (nwu.ac.za)
- Given the strength of the associations observed for multiple independent SNPs, the AHSG gene is an example of a candidate locus suitable for additional investigations including fine mapping to elucidate the biological basis of the findings and further functional experiments to clarify AHSG as a potential therapeutic target. (uthscsa.edu)
- Gene-based mapping yielded ASZ1 as possible fifth locus. (regionh.dk)
- A comparative study of certain gene loci in Salmonella. (wikidata.org)
- rice candidate gene zinc concentration genetic variation zinc biofortification. (who.int)
- In modern research, genetics provides important tools in the investigation of the function of a particular gene, e.g. analysis of genetic interactions . (wikipedia.org)
- Development and exploitation of advanced molecular and biochemical methods for gene identification and characterization of genetic traits and their mode of action. (moa.gov.cy)
- 2013), a human cell gene mutation assay in the TK locus (Budinsky et al. (europa.eu)
- A human cell gene mutation assay in the HPRT locus is also available, although experimental methodology is limited (Budinsky et al. (europa.eu)
- The D Locus (Dilute) corresponds to the MLPH gene that is important in determining coat color in dogs. (pawprintgenetics.com)
- We conducted a comprehensive study in the UK biobank linking germline genetic variation and gene expression with 28 antigens for 16 viruses in 7924 subjects. (medrxiv.org)
- Dyman T.N., Gorodnaia A.V., Tarasiuk S.I., Sipko T.P., Kushnir A.V., Glazko V.I. Participation of structural gene markers and anonymous DNA sequences in genetic differentiation in the species Ovis aries L. and Ovis nivicola borealis, Tsitol Genet. (cytgen.com)
- This genetic pattern in C. seridis may be related to a minimal gene flow with diploid relatives and/or other genetic factors, such as rare polyploidization events, founder effects or an increased selfing rate. (upv.es)
- Thus, it appears that different genetic populations can coexist within the same lake despite the likely occurrence of recombination that tends to homogenize the gene pool. (edu.au)
Expression quantitative trai1
- We retested the association of 56 candidate SNPs with lung adenocarcinoma risk and overall survival in a cohort of 823 Italian patients and 779 healthy controls, and assessed their function as expression quantitative trait loci (eQTLs). (elsevier.com)
Analyses10
- Bioinformatic analyses generated strong hypotheses for the causal SNP at seven loci. (ox.ac.uk)
- Sequence analyses of the ck1 and swp1 loci confirmed the genetic uniqueness of Group 11 genotypes, which produced sequences very divergent from different teams. (iowaodes.com)
- In distinction, genotypes in Teams 1 and a pair of produced comparable nucleotide sequences at these genetic loci, and there was discordant placement of ITS genotypes amongst loci in phylogenetic analyses of sequences. (iowaodes.com)
- Similar to other killifish population genetic analyses, strong genetic differentiation among populations was detected, consistent with isolation by distance models. (biomedcentral.com)
- We identify over 50 additional loci at genome-wide significance in ancestry-specific or multiethnic meta-analyses. (nature.com)
- Along with the genetic clues to PTSD that they uncovered in the European Americans, the authors suggested that findings from the analyses "demonstrate the immediate utility of the MVP samples for disorders prevalent in US veterans. (genomeweb.com)
- Frequency differences between the various genetic configurations of the two cohorts were calculated utilising appropriate statistical analyses. (nwu.ac.za)
- Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. (ox.ac.uk)
- Using genetic analyses, human recall-by-genotype and in vitro experimentation, we demonstrate that PROCR-219Gly increases plasma levels of (activated) protein C through endothelial protein C receptor (EPCR) ectodomain shedding in endothelial cells, attenuating leukocyte-endothelial cell adhesion and vascular inflammation. (unc.edu)
- In some cases, our analyses suggested the presence of different genetically homogeneous subgroups (genetic populations) within the same water body. (edu.au)
Quantitative2
- Correlations between a genetic variant and methylation at a specific CpG site are called methylation quantitative trait loci (mQTL). (eurekalert.org)
- 10.4194/1303-2712-v19_11_08 Viewed : 2359 - Downloaded : 1936 In the present study, 43 quantitative trait loci (QTL) associated with body length and body weight were identified based on the high density genetic map of O. potamophila composed of 6,311 SLAF markers. (trjfas.org)
Identifies1
- High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. (ox.ac.uk)
Polymorphic4
- Except for dominantly based on DNA sequences of either of 2 ge- ospC D3 and Oa, novel polymorphisms were confi rmed in netic loci: 1) the plasmid-borne, highly polymorphic outer at least 1 other sample. (cdc.gov)
- But as the number of polymorphic loci increases linearly, the number of possible genotypic combinations increases exponentially. (harvard.edu)
- Related to proportion_of_polymorphic_loci in SingerLab/gac . (rdrr.io)
- A Multiple Locus Variable-number tandem repeats (VNTR) Analysis (MLVA) assay based on 15 polymorphic markers was previously described. (nih.gov)
Polymorphisms3
- Single-nucleotide polymorphisms at 8 genetic loci achieved genome-wide significance with serum urate levels (P=4×10-8to 2×10-242in SLC22A11, GCKR, R3HDM2-INHBC region, RREB1, PDZK1, SLC2A9, ABCG2, and SLC17A1). (eur.nl)
- Humans and viruses have co-evolved for millennia resulting in genetic polymorphisms that affect response to viral infection. (medrxiv.org)
- Positive association between aspirin-intolerant asthma and genetic polymorphisms of FSIP1: a case-case study. (cdc.gov)
GWAS9
- Using the Immunochip custom SNP array, which was designed for dense genotyping of 186 loci identified through genome-wide association studies (GWAS), we analyzed 11,475 individuals with rheumatoid arthritis (cases) of European ancestry and 15,870 controls for 129,464 markers. (ox.ac.uk)
- We conducted a cross-ancestry GWAS in ALS including 29,612 ALS patients and 122,656 controls which identified 15 risk loci in ALS. (researchsquare.com)
- By conducting a GWAS meta-analysis in a large multiethnic population and employing recently developed integrative genomic methods, we identify over 50 additional loci associated with pulmonary function, including some with functional or clinical relevance. (nature.com)
- We find that our MTAG meta-analysis of intelligence shows similar genetic correlations to 26 other phenotypes when compared with a GWAS consisting solely of cognitive tests. (biorxiv.org)
- RNA-sequencing indicated differential expression of POLR1B and TMEM87B in cluster headache patients.INTERPRETATION: This genomewide association study (GWAS) identified and replicated genetic risk loci for cluster headache with effect sizes larger than those typically seen in complex genetic disorders. (regionh.dk)
- This first GWAS meta-analysis for TPOAbs identified five newly associated loci, three of which were also associated with clinical thyroid disease . (bvsalud.org)
- GWAS of congenital heart defects have shown that while some loci appear to be specific to certain CHDs, others seem to be associated with multiple CHDs. (cdc.gov)
- Most replicated loci from birth defects GWAS are in non-coding regions, and thus would not be detected using WES. (cdc.gov)
- Many birth defects appear to be caused by a combination of genetic and environmental factors, and GWAS can provide a mechanism for looking at genetic interactions with common exposures such as smoking and alcohol use. (cdc.gov)
Traits6
- ALS associated risk loci were shared with multiple traits within the neurodegenerative spectrum, but with distinct enrichment patterns across brain regions and cell-types. (researchsquare.com)
- Graham King has developed and characterised a range of Brassica genetic and genomic resources underpinning crop improvement traits. (edu.au)
- Advances in understanding the genetic basis of crop traits requires detailed knowledge of the complex genome structure of Brassica species. (edu.au)
- A significant association between morphological and bread wheat quality traits was observed while the correlation was weak with the genetic data. (tubitak.gov.tr)
- It shows that the growth traits of O. potamophila were likely controlled by 10 QTLs distributed on three genetic linkage groups (LG4, LG6 and LG16). (trjfas.org)
- In the Metabolic Syndrome in Men (METSIM) study of 10,197 well-characterized individuals, we identified novel loci and additional signals for metabolic traits related to obesity, type 2 diabetes (T2D), and the metabolic syndrome. (grantome.com)
Genotypes6
- We point out that the fitness of such initial genotypes is far less than the theoretical maximum fitness because they contain a favorable allele at only a fraction of the loci. (harvard.edu)
- Molecular characterizations of the microsporidian pathogen Enterocytozoon bieneusi on the ribosomal inside transcribed spacer (ITS) locus have recognized almost 500 genotypes in 11 phylogenetic teams with completely different host ranges. (iowaodes.com)
- Genetic characterizations of these and lots of divergent E. bieneusi genotypes at different genetic loci are up to now inconceivable. (iowaodes.com)
- Multilocus analysis including all susceptibility loci showed that 329 of 331 individuals (99%) with the highest-risk genotypes were cases, and 85% of these had advanced AMD. (elsevier.com)
- This would be expected based on the fact that the congenic CBA.B6 mice genotypes included the mutant Ahl locus. (cdc.gov)
- Analysis of variance showed a significant genetic variation among genotypes for all indices except for TOL and SSPI indices. (bvsalud.org)
Genomic2
Polymorphism3
- The effect of the most significant single-nucleotide polymorphism at all genome-wide significant loci on serum urate was added to create a genetic urate score. (eur.nl)
- Genetic polymorphism of the histocompatibility-2 loci of the mouse. (wikidata.org)
- A total of 68 clonal strains were investigated using Amplified Fragment Length Polymorphism (AFLP), a sensitive genetic fingerprinting technique. (edu.au)
Genetics3
- Our study highlights the utility of multiethnic and integrative genomics approaches to extend existing knowledge of the genetics of lung function and clinical relevance of implicated loci. (nature.com)
- The Paw Print Genetics D Locus (Dilute) coat color test evaluates two loci (d 1 and d 2 ) to determine the D locus genotype for the dog. (pawprintgenetics.com)
- Two genetic loci are associated with renal cell carcinoma (RCC), according to a new report published online this week in Nature Genetics in a study led by IARC scientists in collaboration with colleagues from over 50 different centres. (who.int)
Rheumatoid arthritis2
- We identified 14 new susceptibility loci, 9 of which were associated with rheumatoid arthritis overall and five of which were specifically associated with disease that was positive for anticitrullinated peptide antibodies, bringing the number of confirmed rheumatoid arthritis risk loci in individuals of European ancestry to 46. (ox.ac.uk)
- Eighty-nine multicase rheumatoid arthritis families, each containing at least one affected sib pair, have been studied for evidence of genetic linkage to a panel of 315 microsatellite DNA markers. (ox.ac.uk)
Markers5
- Microsatellites were evaluated as genetic markers for the mitochondrial genome (mtDNA) of Phytophthora cinnamomi for population studies. (digglicious.com)
- Markers were efficient in discriminating the species and the highest genetic diversity information was obtained from the markers Xgwm312 and Xgwm372. (tubitak.gov.tr)
- Genetic variability and genetic differentiation in two Ovis species--domesticated (Askanian sheep, Sokilska and Kulunda sheep) and wild (bighorn sheep) were analyzed using different types of molecular-genetic markers--genetic-biochemical (30 loci) and DNA (ISSR-PCR) ones. (cytgen.com)
- The average heterozygosity of biochemical markers loci was in range of 0.073-0.188. (cytgen.com)
- METHODS: We conducted a genomewide association study of 960 Dutch persons with Dupuytren's disease and 3117 controls (the discovery set) to test for association between the disease and genetic markers. (ox.ac.uk)
Causal4
- We performed a genome-wide association study to search for genetic susceptibility loci for serum urate and gout and investigated the causal nature of the associations of serum urate with gout and selected cardiovascular risk factors and coronary heart disease (CHD). (eur.nl)
- Conclusions-The genetic urate score analysis suggested a causal relationship between serum urate and gout but did not provide evidence for one between serum urate and cardiovascular risk factors and CHD. (eur.nl)
- Fine-mapping in the TRAF-C5 region could not distinguish whether the SNP in question was functionally causal, or whether a closely linked locus was the true causative variant. (hopkinsarthritis.org)
- We identify PROCR-p.Ser219Gly as the likely causal variant at the locus and protein C as a causal factor. (unc.edu)
Disease12
- RA is a complex, polygenic disorder and, much like other diseases of this sort (diabetes, atherosclerotic heart disease) have many genetic determinants that each may make small but significant contributions to risk. (hopkinsarthritis.org)
- The variant allele homozygote at the C-11377G locus was associated with increased disease risk within the Cuban cohort investigated. (nwu.ac.za)
- Our studies extend the catalog of AMD associated loci, help identify individuals at high risk of disease, and provide clues about underlying cellular pathways that should eventually lead to new therapies. (elsevier.com)
- Genetic loci influencing kidney function and chronic kidney disease. (ox.ac.uk)
- Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus. (unc.edu)
- We present an integrative approach to reveal the molecular mechanism underlying the PROCR locus, associated with lower coronary artery disease (CAD) risk but higher venous thromboembolism (VTE) risk. (unc.edu)
- This review summarizes the major pathological factors linking obesity to diabetes, focussing on current epidemiological data related to obese diabetic patients in the Arab world, the etiology of the disease and the genetic determinants of diabetes and obesity. (who.int)
- Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE . (bvsalud.org)
- RESULTS: Initially, we observed a significant genomewide association between Dupuytren's disease and 8 SNPs at three loci. (ox.ac.uk)
- CONCLUSIONS: This study implicates nine different loci involved in genetic susceptibility to Dupuytren's disease. (ox.ac.uk)
- Genetic loci associated with Alzheimer's disease. (cdc.gov)
- Thus, our study helps identify Idd loci that control tissue-specific disease or confer general susceptibility to autoimmunity, and brings insight to the Treg-dependence of autoimmune processes influenced by given Idd region in the NOD background. (researcher-app.com)
Populations8
- Multiple tolerant and neighboring sensitive killifish populations were compared with the expectation that genetic loci associated with DLC tolerance would be revealed. (biomedcentral.com)
- However, pairwise comparisons of nearby tolerant and sensitive populations revealed high differentiation among sensitive and tolerant populations at these specific loci: AHR 1 and 2, cathepsin Z, the cytochrome P450s (CYP1A and 3A30), and the NADH dehydrogenase subunits. (biomedcentral.com)
- The observed differences in allelic composition at the AHR2 and CYP1A SNP loci were identified as significant among paired sensitive/tolerant populations of Atlantic killifish with multiple statistical tests. (biomedcentral.com)
- In particular, the confounding effect of population stratification in genetic association studies can lead to spurious findings when the source populations are not homogeneous. (hopkinsarthritis.org)
- Nearly 100 loci have been identified for pulmonary function, almost exclusively in studies of European ancestry populations. (nature.com)
- Nevertheless, we observe genetic heterogeneity between divergent populations at several established risk loci driven by differences in allele frequency (NOD2) or effect size (TNFSF15 and ATG16L1) or a combination of these factors (IL23R and IRGM). (ox.ac.uk)
- Our results provide biological insights into the pathogenesis of IBD and demonstrate the usefulness of trans-ancestry association studies for mapping loci associated with complex diseases and understanding genetic architecture across diverse populations. (ox.ac.uk)
- The change allows for more genetic loci to be examined per test run and better detection of heteroresistance (i.e., mixture of resistant and susceptible populations) that improves the limit of detection (LOD) for resistance-associated mutations. (cdc.gov)
Variation2
- Considerable effort has been spent attempting to identify the genetic and biochemical mechanisms underlying inter- and intra-specific variation in DLC sensitivity in vertebrates. (biomedcentral.com)
- Further identifying genetic influences on chromatin variation in adipose tissue would help define molecular events that influence regulatory mechanisms. (grantome.com)
Recombination1
- Clustering of loci in the centromeric regions of the maps, resulting from the concentration of recombination events in the distal chromosomal regions, is observed in wheat and rye, but not in barley. (usda.gov)
Replication1
- This same SNP was identified as a major risk locus in the replication scan using tagging SNPs in the TRAF1-C5 region and was significantly associated with risk of anti-CCP positive RA in the combined population (p-value=2.8×10-8). (hopkinsarthritis.org)
Genome-wide significant1
- Only 2 loci (SLC2A9, ABCG2) showed genome-wide significant association with gout. (eur.nl)
Differentiation4
- In addition they point out that there isn't a clear genetic differentiation of ITS Teams 1 and a pair of at different genetic loci, supporting the conclusion on the dearth of strict host specificity in each teams. (iowaodes.com)
- Ample genetic differentiation and divergence were revealed among the entries, which were accommodated into similarity coefficient-based six clusters, remarkably consistent with grain Zn concentrationof the entries. (who.int)
- The polyploid origin of C. seridis, the genetic diversity and population structure of the three cytotypes, and the degree of genetic differentiation among them were analyzed in seven mixed-ploidy zones, involving different subspecies and ecological conditions. (upv.es)
- Neither taxonomic assignment at subspecies level, nor ecological conditions could explain the genetic differentiation between tetraploid clusters. (upv.es)
SNPs1
- 0.05 × 10 -8 ) SNPs near the AHSG locus, the top SNP was rs4917 (P=1.27×10 -303 ), a known coding SNP in exon 6 that is associated with a 0.06 g/l (~13%) lower fetuin-A level. (uthscsa.edu)
Determinants2
- Thus far, unbiased investigations of the genetic determinants of plasma fetuin-A concentrations have not been conducted. (uthscsa.edu)
- We also observe that genetic determinants of ACE2 expression may influence SARS-CoV-2 susceptibility. (medrxiv.org)
Strains2
- Click "Sequence Details" to view all sequence information for this locus, including that for other strains. (yeastgenome.org)
- Thus, we generated NOD-B7-2KO strains congenic at Idd loci and examined the development of neuritis and clinical neuropathy. (researcher-app.com)
Sequence3
- thrombosis (thrombophilia) may be a con- sequence of both acquired and inherited or genetic causes. (who.int)
- Microsatellite marker analysis involves PCR amplification of the microsatellite loci using fluorescently labeled primers that flank the repeated sequence. (digglicious.com)
- A total of 24 wheat cultivars and 5 wild progenitors of wheat were examined using 24 simple sequence repeat (SSR) primers with a known physical locus on the A, B, and D genomes of hexaploid wheat. (tubitak.gov.tr)
Mutations6
- Likewise, both adaptation to temperature and adaptation to pressure were affected by mutations in a number of sensory and regulatory loci, suggesting the importance of signal transduction mechanisms in adaptation to either physical parameter. (unipd.it)
- The method may allow researchers to edit more types of genetic mutations than existing genome-editing approaches such as CRISPR-Cas9, researchers report today (October 21) in Nature . (the-scientist.com)
- In order to compare its accuracy to CRISPR-Cas9, the team used its technology to edit four genetic mutations. (the-scientist.com)
- This dog does not carry any copies of the d 1 or d 2 mutations and has a D locus genotype of D/D which does not result in the "dilution" or lightening of the pigments that produce the dog's coat color. (pawprintgenetics.com)
- This dog carries one copy of each of the possible d mutations and has a D locus genotype of D/d or d/d that cannot be distinguished without additional testing of parental samples or by examining the nose and coat color of this dog. (pawprintgenetics.com)
- If both mutations are present on the same copy of the D locus, this dog will have a D/d genotype and typically will not have a dilute coat, nose and footpads. (pawprintgenetics.com)
Distinct1
- We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. (ox.ac.uk)
Genotype4
- This dog carries one copy of either the d 1 or d 2 Mutation and has a D locus genotype of D/d which does not result in the "dilution" or lightening of the pigments that produce the dog's coat color. (pawprintgenetics.com)
- This dog carries two copies of the same d mutation and has a D locus genotype of d/d which results in the "dilution" or lightening of the pigments that produce the dog's coat color. (pawprintgenetics.com)
- The D locus genotype for this dog can be inferred without the need for parental testing by evaluating the color of this dog's coat and nose. (pawprintgenetics.com)
- If this dog's coat and nose are dilute, the D locus genotype of this dog must be d/d and this dog will pass one copy of d to 100% of its offspring. (pawprintgenetics.com)
Autosomal recessive1
- Phenylketonuria [PKU] is an autosomal recessive genetic disorder caused by defects in the phenylalanine hydroxylase [PAH] system. (who.int)
Microsatellite1
- Two (A)n microsatellite loci were cloned from the mtDNA of P. cinnamomi. (digglicious.com)
Study10
- For this study, 75 random, unrelated individuals were analyzed for D12S66 locus, whereas 76 individuals were analyzed for D12S67 locus. (astm.org)
- In this study, we have investigated the BiCHM 19q13.4 locus by genotyping a fifth family (CX02) with two affected sisters and seven unrelated women who had two or more BiCHM but no known family history of molar pregnancies. (bmj.com)
- The lack of association between the genetic score and the latter phenotypes also was observed in the Women's Genome Health Study. (eur.nl)
- The answer, suggests a new study, may be genetic. (medicalnewstoday.com)
- To the authors' knowledge, this is the first time that a genetic association study has also examined thin and healthy individuals. (medicalnewstoday.com)
- The study also found that slim individuals had a significantly lower genetic risk score. (medicalnewstoday.com)
- CDC funds research to study genetic and non-genetic risk factors for structural birth defects through the Centers for Birth Defects Research and Prevention . (cdc.gov)
- The objective of this study was to dissect the diversity of genetic, agronomic, and quality characteristics of bread wheat cultivars grown on 25% of the total wheat area in Turkey. (tubitak.gov.tr)
- In addition, our study shows that protists with identical ITS sequences can harbor considerable amounts of genetic diversity. (edu.au)
- A genome-wide association study reports on the potential genetic factors associated with the development of COVID-19. (who.int)
Pathways1
- 2016. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. (edu.au)
Variant1
- A genetic variant near MMP9 specific to the neovascular form of AMD was also identified. (medscape.com)
Allele3
- For 741 Ixodes ticks from northeastern and north-cen- the extent of genomewide genetic exchange in this spe- tral United States or from northern California, 1 ospC allele cies may have been underestimated ( 6 ). (cdc.gov)
- In addition, significant shifts in minor allele frequency were observed at AHR2 and CYP1A loci across most sensitive/tolerant pairs, but only AHR2 exhibited shifts in the same direction across all pairs. (biomedcentral.com)
- The allele pairs of the hybrids were composed of four parts, i.e. positive dominant heterozygous loci, positive additive homozygous loci, negative additive homozygous loci and dominant heterozygous loci, with their relative importance in a descending order. (chinacrops.org)
Findings2
- These findings point to familial MG as a separate genetic entity. (ox.ac.uk)
- Our findings elucidate the genetic architecture of host response to viral infection, with potential implications for complex diseases and COVID-19. (medrxiv.org)
Analysis5
- When we confi ned analysis to samples from northeast- the summers of 2004, 2005, 2006, and 2007, as described ern states, we confi rmed linkage disequilibrium between ospC and IGS1 loci ( 7 , 10 , 14 ). (cdc.gov)
- We present here the genetic analysis of a Hungarian family where nine members from two generations are affected by myasthenia gravis. (ox.ac.uk)
- We show that the results of our combined analysis demonstrate the same pattern of genetic correlations as a single measure/the simple measure of intelligence, providing support for the meta-analysis of these genetically-related phenotypes. (biorxiv.org)
- Diversity analysis of genetic, agronomic, and quality characteristics " by MUSTAFA ERAYMAN, EMRE İLHAN et al. (tubitak.gov.tr)
- Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria. (bmj.com)
Association2
- As the researchers explain, genetic association studies so far have focused on people who are overweight, as well as zooming in on body mass index ( BMI ) and obesity . (medicalnewstoday.com)
- This association has been explained, because cancer and NSCL/P may share similar genetic defects, which may be segregated within family 21,22 . (bvsalud.org)
Significance1
- We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. (ox.ac.uk)
Chromosomes2
- Within organisms , genetic information generally is carried in chromosomes , where it is represented in the chemical structure of particular DNA molecules . (wikipedia.org)
- Genetic maps of the homoeologous group-2 chromosomes were constructed, comprising 114 loci in wheat and 34 loci in rye. (usda.gov)
Inflammatory1
- Psoriasis , which manifests most often as plaque psoriasis, is a chronic, relapsing, inflammatory skin disorder with a strong genetic basis. (medscape.com)
Linkage groups1
- The results showed that 38 SSR loci located on 17 linkage groups were identified to associate with hybrid yield in the diallel crosses with more loci on linkage groups D1a, M, etc., and eight of the 38 loci were located within a region of ±5 cM apart from a known QTL identified from family-based linkage (FBL) mapping in the literature. (chinacrops.org)
Biological3
- Biological insights from 108 schizophrenia-associated genetic loci. (ox.ac.uk)
- 2014. Biological insights from 108 schizophrenia-associated genetic loci. (edu.au)
- Like compounds from biological sources and low-molecular-weight nonoccupational asthma, occupational asthma is probably the chemicals cause occupational asthma after a latent period of result of multiple genetic, environmental, and behavioral exposure. (cdc.gov)
Congenic2
Cytochrome2
- ORCID: https://orcid.org/0000-0002-4216-5044 , Sargison, ND , Betson, M and Chaudhry, U 2022, 'Genetic characterisation of the Theileria annulata cytochrome b locus and its impact on buparvaquone resistance in bovine' , International journal for parasitology. (salford.ac.uk)
- First, we investigated genetic characteristics of the cytochrome b locus associated with buparvaquone resistance in 10 susceptible and 7 resistant T. annulata isolates. (salford.ac.uk)
Differences1
- 3 These genetic factors make a greater contribution to phenotypic differences as age increases from childhood to adulthood. (biorxiv.org)
Identify1
- These genetic data will be combined with extensive maternal interview data on environmental exposures during pregnancy to identify modifiable risk factors and inform prevention efforts. (cdc.gov)