Inheritance for genes analysis gene frequency. Medical search. Frequent questions

It is caused by a point mutation (G→T) at nucleotide position 559 of the gene, bovine solute carrier family 35 member 3 (SLC35A3). (researchgate.net)
Surprisingly, the sequence analysis of PCR product also revealed the presence of two previously unknown homozygous mutations (TG→CT) at nucleotide positions 554 and 555 in addition to the previously reported heterozygous mutation at position 559. (researchgate.net)
Sequence analysis of these genes is being used to identify BRCA1/2 mutation carriers, though these efforts are hampered by the high frequency of variants of unknown clinical significance (VUSs). (jci.org)
Individuals carrying a mutation in the breast cancer 1, early onset gene ( BRCA1 ) are at increased risk of breast or ovarian cancer and thus are candidates for risk reduction strategies such as oophorectomy and mastectomy. (jci.org)
Most people with TAR syndrome have a mutation in one copy of the RBM8A gene and a deletion of genetic material from chromosome 1 that includes the other copy of the RBM8A gene in each cell. (medlineplus.gov)
People with either an RBM8A gene mutation and a chromosome 1 deletion or with two gene mutations have a decreased amount of RNA-binding motif protein 8A. (medlineplus.gov)
Unlike rare genetic diseases that are caused by a single gene mutation, diabetes has many gene contributors whereby each variant has a small effect. (cedars-sinai.edu)
Meta-analysis combining data from all participating cohorts identified a naturally occurring mutation, an alanine (Ala) to threonine (Thr) change at amino acid position 316, in the glucagon-like peptide-1 receptor (GLP-1R) that regulates fasting glucose, with the Thr allele associated with reduced glucose levels. (cedars-sinai.edu)
METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
Cause is a gene mutation affecting type IV collagen. (msdmanuals.com)
Alport syndrome is a nephritic syndrome caused by a mutation in the COL4A3 , COL4A4 , and COL4A5 genes that encode the alpha-5 chain of type IV collagen and results in altered type IV collagen strands. (msdmanuals.com)

Here, we report amino acid changes in the CDSN and PSORS1C2 genes depleted in leprosy cases, indicating them as candidate genes in the chromosome 6p21 locus. (bvsalud.org)
We hope that this effort will be helpful for understanding the studies performed so far, and for encouraging the inclusion of other candidate genes not explored to date. (frontiersin.org)
The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
Using data from the second phase (1991-1994) of the Third National Health and Nutrition Examination Survey (NHANES III), we examined associations between 22 polymorphisms in 13 candidate genes and four serum lipids: high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TG). (cdc.gov)

Genes encode much of the information needed to form the human brain. (wikipedia.org)
Genetic studies have clarified that most microcephaly genes encode ubiquitous proteins involved in mitosis and in maintenance of genomic stability, but the effects of their inactivation are particularly strong in neural progenitors. (cancerindex.org)

A region of homozygosity harboring the neonatal diabetes disease gene on chromosome 10p12.1-p13 was identified (multipoint logarithm of odds score 3.25). (diabetesjournals.org)
It is likely that chromosome 10p12.1-p13 may harbor a maturity-onset diabetes of the young or type 2 diabetes gene. (diabetesjournals.org)
A small number of affected individuals have mutations in both copies of the RBM8A gene in each cell and do not have a deletion on chromosome 1. (medlineplus.gov)
The RBM8A gene is found on chromosome 1 . (medlineplus.gov)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
The IL18R1 gene is clustered with IL18RAP and IL1RL1 in the leprosy GWAS locus on chromosome 2q12.1. (bvsalud.org)
Since the last-mentioned point involves a new type of effect of the Y-chromosome, it seems desirable to record it, even though the analysis is still unfinished. (caltech.edu)
2) If the normal X's of such hyperploids carry the recessive gene for yellow, the flies are wild-type in appearance because of the presence of +y in the duplicating chromosome. (caltech.edu)
In a series of papers, Serebrovsky (1930), Dubinin (1929), Agol (1930) and their colleagues have described an extremely interesting group of bristle-reducing mutant genes lying at the scute locus of the X-chromosome of Drosophila melanogaster. (caltech.edu)
A recent paper in this journal by Detlefsen(1) is introduced as follows: "There is a well intrenched concept of recent genetics that hereditary factors or genes may be given fairly definite loci on chromosome maps and that these maps correspond to or represent, roughly perhaps, the actual conditions in the chromosome. (caltech.edu)
Morgan considered these two genes as lying in a "second chromosome," the first chromosome being the sex chromosome. (caltech.edu)
Most, if not all, cases of WS1 are caused by mutations in the PAX3 gene located on chromosome band 2q35. (medscape.com)
Mutations in the MITF gene, located on chromosome band 3p14.1-p12.3, cause some cases of WS2. (medscape.com)

Multipoint linkage analysis was undertaken using the HOMOZ/MAPMAKER program ( 5 ) assuming a fully penetrant autosomal recessive mode of inheritance, a disease allele frequency of 0.001, and equal allele frequencies of markers. (diabetesjournals.org)
In line with the criteria applied in the published study ( Nalls et al, 2014 ), only variants with a minor allele frequency ≥0.1% and those assessed in at least 3 of the 15 datasets have been included for display in PDGene. (pdgene.org)
However, defining the threshold at which a variant should be considered "too common" is challenging and therefore diagnostic laboratories have typically set conservative allele frequency thresholds. (biomedcentral.com)
The observations made in this study suggest that, with certain caveats, a very low allele frequency threshold can be adopted to more accurately interpret sequence variants. (biomedcentral.com)
One class of empirical data, however, has great potential for improving variant interpretation: population allele frequency data. (biomedcentral.com)
According to the joint consensus recommendation for the interpretation of sequence variants by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP), an "allele frequency greater than expected for disorder" is strong evidence for a benign classification [ 2 ]. (biomedcentral.com)
However, the recommendation provides no detailed guidance for determining the expected allele frequency of pathogenic variants. (biomedcentral.com)

The majority of the pathogenic variants are nonsense mutations and result in the loss of function of kindlin-1 gene ( 1 ). (spandidos-publications.com)
VAAST's secret sauce, according to Reese, is that it is able to quickly mine genomic data, prioritize and identify disease-causing genes and their variants, and determine the statistical significance of any hits. (genomeweb.com)
These improvements arise from the developers' strategy of combining two established methods for variant prioritization: the amino acid substitution, or AAS, approach and an aggregative approach that "collapses" rare variants into a single group for analysis. (genomeweb.com)
As a result, evaluating sequence variants "in the context of pre-existing gene annotations" is gaining in importance, but tools that were developed to analyze data from SNP arrays and genome-wide association studies fall short. (genomeweb.com)
Unlike analysis methods developed for GWAS, "which evaluate the statistical significance of frequency differences for individual variants in cases vs. controls, VAAST evaluates the likelihood of observing the aggregate genotype of a feature given a background dataset of control genomes," the authors note, adding that this approach "greatly improves statistical power, in part because it bypasses the need for large statistical corrections for multiple tests. (genomeweb.com)
VAAST scores variants by combining "variant frequency data with AAS effect information on a feature-by-feature basis," where a feature is defined as "one or more user-defined region - [genes and conserved sequence regions for example] - of the genome," the researchers explain in the paper. (genomeweb.com)
To address this problem, we hypothesized that genes contributing to leprosy susceptibility differ in their frequencies of rare protein-altering variants between cases and controls. (bvsalud.org)
Using deep resequencing we assessed protein-coding variants for 34 genes located in GWAS or linkage loci in 555 Vietnamese leprosy cases and 500 healthy controls. (bvsalud.org)
A significant depletion of protein-altering variants was detected for the IL18R1 and BCL10 genes in leprosy cases. (bvsalud.org)
Seven-hundred controls from the local population were used to detect gene-sets significantly enriched with rare variants in CDD patients. (biomedcentral.com)
In this translational study, rare sequence variants in MKRN3 , DLK1 , KISS1 , and KISS1R genes were investigated in patients with CPP. (frontiersin.org)
In the latter analysis, the status of variants in genes known to be related with pubertal timing was compared with an in-house Cypriot control cohort (n = 43). (frontiersin.org)
Three previously described pathogenic MKRN3 variants located in the coding region of the gene were identified in 12 index girls with CPP. (frontiersin.org)
The frequency of a variant in the general population is a key criterion used in the clinical interpretation of sequence variants. (biomedcentral.com)
Allele frequencies of pathogenic variants in ClinVar, as well as variants expected to be pathogenic through the nonsense-mediated decay (NMD) pathway, were analyzed to study the burden of pathogenic variants in 79 genes of clinical importance. (biomedcentral.com)
Therefore, we expanded the analysis to examine the distributions of NMD expected variants in 77 additional genes. (biomedcentral.com)
Furthermore, pathogenic variants with allele frequencies greater than 0.01% were well characterized in publications and included many founder mutations. (biomedcentral.com)
however, their applications are limited to genes for which high-quality curated lists of pathogenic variants are available. (biomedcentral.com)
Variants within APOE (rs7412, rs429358), PON1 (rs854560), ITGB3 (rs5918), and NOS3 (rs2070744) were found to be associated with one or more blood lipids in at least one race/ethnic group in crude and adjusted analyses. (cdc.gov)

Our study indicates the specific mode of inheritance and gives relative contributions of a major locus and background genotype. (elsevierpure.com)
Univariate and multivariable linear regression and within-gene haplotype trend regression were used to test for genetic associations assuming an additive mode of inheritance for each of the three major race/ethnic groups in the United States (non-Hispanic white, non-Hispanic black, and Mexican American). (cdc.gov)

Our results show that deep resequencing can identify leprosy candidate susceptibility genes that had been missed by classic linkage and association approaches. (bvsalud.org)
To establish the unambiguous molecular identity of classical HLA class I and class II leprosy susceptibility factors, we applied next-generation sequencing to genotype with high-resolution 11 HLA class I and class II genes in 1,155 individuals from a Vietnamese leprosy case-control sample. (bvsalud.org)
We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
However, these genes can not account for the overall inheritance of susceptibility to POAG pathogenesis. (molvis.org)

Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor. (medlineplus.gov)
The CHARGE diabetes working group has searched for rare mutations altering the proteins coded by genes that affect diabetes, glucose, insulin, obesity and other related traits. (cedars-sinai.edu)

There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)

KS is inherited in an autosomal recessive manner and FERMT1 has been identified to be a pathogenic gene ( 1 ). (spandidos-publications.com)
It is also estimated that each human being is a carrier of around five recessive lethal genes and perhaps even more recessive disease genes, which may pose risk for the offspring of related individuals (such as cousin marriages). (dorak.info)
WS4 is a heterogeneous disorder with either autosomal recessive or autosomal dominant inheritance. (medscape.com)
Studies have shown that NGLY1-congenital disorder of deglycosylation follows an autosomal recessive inheritance pattern, meaning that both copies of the NGLY1 gene must be mutated for an individual to develop the condition. (angis.org.au)

Women who are heterozygous carriers of mutations in either gene have a 60%-80% lifetime risk of breast cancer and a 10%-40% lifetime risk of ovarian cancer ( 1 ), reflecting a very high penetrance. (jci.org)
heterozygous mutations in either of these genes cause isolated Hirschsprung disease. (medscape.com)

Analysis of Genetic Inheritance in a Family Quartet by Whole Genome Sequencing, 328 SCIENCE 636 (2010). (jdsupra.com)

A multi‑gene panel test consisting of 541 genetic loci of monogenic hereditary diseases was performed. (spandidos-publications.com)
The genes encoding the type II gonadotropin-releasing hormone receptor and the ribonucleoprotein RBM8A in humans overlap in two genomic loci. (medlineplus.gov)
However, GWAS loci commonly encompass multiple genes, which poses a challenge to define causal candidates for each locus. (bvsalud.org)
Even if they are considered to be intersexual, the abnormality may be induced by any one of at least seven different Minutes, or by other independent combinations of genes, and therefore cannot be used to support the view that there are very few loci involved in the determination of sex. (caltech.edu)
In these cases there is -- with the exception noted -- no evidence for gene interaction, either between allelomorphs or between genes at different loci. (caltech.edu)
Castle(1) has proposed an arrangement of linked genes in three dimensions, based on the assumption that the distance between any two loci is exactly proportional to the observed crossover value. (caltech.edu)

We report a genomewide linkage analysis of a large consanguineous family segregating autosomal recessively inherited neonatal diabetes and the identification of a novel neonatal diabetes locus. (diabetesjournals.org)

Epigenetics studies these alternative modes of inheritance. (plos.org)
These 77 genes were selected to represent a broad set of clinical areas, modes of inheritance, and penetrance. (biomedcentral.com)

Online Mendelian Inheritance in Man (OMIM) no. 173650] is a rare subtype of inherited epidermolysis bullosa ( 1 ). (spandidos-publications.com)
OMIM is another valuable database that provides detailed information about the NGLY1 gene and its associated disorders. (angis.org.au)
The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic diseases, including NGLY1-congenital disorder of deglycosylation. (angis.org.au)
The OMIM entry for NGLY1-congenital disorder of deglycosylation includes references to articles and studies on the frequency and inheritance of this condition. (angis.org.au)
Additional information on the frequency and associated symptoms of this disorder can be found in scientific articles, databases like OMIM, and advocacy resources. (angis.org.au)

Seifert M, Steimle-Grauer SA, Goossens T, Hansmann ML, Brauninger A, Kuppers R. A model for the development of human IgD-only B cells: Genotypic analyses suggest their generation in superantigen driven immune responses. (medscape.com)

The various forms of Waardenburg syndrome (WS), a neurocristopathy, arise from mutations in multiple genes. (medscape.com)
Mutations in multiple genes cause the various forms of Waardenburg syndrome (WS). (medscape.com)

Four additional genes contribute 2.5% each one (MITF, KCNQ4, EYA4, SOX10) and the remaining are residually represented. (nih.gov)

As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)

To the our best of knowledge, this is the first study to report the existence of homozygous and heterozygous mutations at positions 554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. (researchgate.net)
2. Out of 19 females caught in nature, two were heterozygous for a gene which causes strong deviations in the normal sex distribution. (geneconvenevi.org)

For all remaining and "binned" meta-analysis results, these datasets needed to be removed for online display. (pdgene.org)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Furthermore, the usefulness of such data for clinical variant interpretation was limited because allele frequencies were calculated using small datasets, resulting in frequency estimates of limited accuracy. (biomedcentral.com)

Further knowledge on the genetic epidemiology of NSHI in Europe needs a standardization of the experimental approaches and a stratification of the results according to clinical features, familial history and patterns of inheritance, to facilitate comparison between studies. (nih.gov)
The first observations of the skewed inheritance patterns that are characteristic of what we now refer to as 'gene drive' were made by a Russian researcher. (geneconvenevi.org)
The earliest reports of skewed patterns of inheritance which today we would refer to as 'drive' were made in the first half of the 20th century, although the term 'drive' was not used until 1957. (geneconvenevi.org)
The transcriptional patterns in each parasite are clonally transmitted over multiple generations of asexual growth, with stochastic switches between the active and silenced states occurring at low frequency ( Figure 1A ). (plos.org)
Research on NGLY1-congenital disorder of deglycosylation is ongoing, and scientific studies are being conducted to further understand the causes, inheritance patterns, and associated genes. (angis.org.au)

A recurring problem in the clinic is that many detectable changes within the BRCA1 gene produce subtle alterations to the protein that are not easily recognized as either harmful (loss-of-function) alleles or harmless and thus inconsequential polymorphisms. (jci.org)
Conceivably, DNA alterations in genes governing the embryonic development of the hepatobiliary-pancreatic system could underlie CDD. (biomedcentral.com)
Alterations in synaptic genes are most commonly implicated in autism and other cognitive disorders. (genominfo.org)

The data currently available on PDGene include all results pertaining to the discovery phase of the GWAS meta-analysis by Nalls et al, 2014 . (pdgene.org)
In order to ensure the privacy of individuals who participated in the GWAS which contributed to the meta-analysis results posted on PDGene (see Craig et al, 2011 , and references therein for an introduction into the topic), we have devised the data-sharing strategy described below. (pdgene.org)
For all of the top 10,000 most significant GWAS meta-analysis results, detailed information including summary odds ratios, 95% confidence intervals, and p values are available on PDGene. (pdgene.org)

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (medlineplus.gov)
Acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and the familial form of porphyria cutanea tarda (PCT) follow an autosomal dominant inheritance pattern with low penetration. (medscape.com)

Evidence suggests that the MITF gene transactivates the tyrosinase gene, which is involved in melanocyte differentiation. (medscape.com)
Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
Evidence for linkage was supported by linkage analysis with the two SNPs, with a maximal multipoint nonparametric linkage score of 1.57 and a maximal multipoint heterogeneity lod score of 2.11. (neurotransmitter.net)

In addition, we discuss reports on the interactions of OXT and AVP receptor genes and genes involved in other pathways (such as those of dopamine, serotonin, and reelin), as well as research that has shed some light on the impact of gene polymorphisms on the volume, connectivity, and activation of specific neural structures, differential receptor expression, and plasma levels of the OXT and AVP peptides. (frontiersin.org)
Recent candidate gene studies [ 13 - 16 ], as well as genome-wide association studies [ 17 - 25 ], have identified polymorphisms that account for a portion of the variation in blood lipid levels. (cdc.gov)
Polymorphisms in ACE, ACE2, AGTR1 genes and severity of COVID-19 disease. (cdc.gov)

As explained in the opinion, the claimed method involves determining haplotype phase, i.e ., 'a process for determining the parent from whom alleles- i.e ., versions of a gene-are inherited. (jdsupra.com)
Recent publications of large population sequencing data, such as the Exome Aggregation Consortium (ExAC) database, provide an opportunity to characterize with accuracy and precision the frequency distributions of very rare disease-causing alleles. (biomedcentral.com)

Genetic testing for deleterious mutations in breast cancer 1, early onset gene ( BRCA1 ) and BRCA2 can provide key information to guide clinical decision making. (jci.org)
Based on the clinical manifestations and genetic analysis, KS was diagnosed in the patient. (spandidos-publications.com)
Distal arthrogryposis type 1: clinical analysis of a large kindred. (medlineplus.gov)
He told BioInform 's sister publication Clinical Sequencing News that the platform will be used to clinically annotate both whole genomes and more targeted data such as exomes or gene panels ( CSN 06/29/11 ). (genomeweb.com)
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be involved. (nih.gov)
Some haemoglobinopathy genes ( alpha-thal, beta-thal and HbS ) cause alpha-thalassaemia, beta-thalassaemia and sickle-cell anaemia, respectively, but others ( HbE and HbC ) cause severe clinical manifestations of the disease only when combined with one of the former genes. (who.int)
Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)

The aim of this study was to detect carriers of CVM in Holstein population using Polymerase Chain Reaction- Primer-introduced restriction analysis and Restriction Fragment Length Polymorphism (PCR-PIRA and RFLP) methods. (researchgate.net)
Our results show that one out of 60 bulls tested exhibited polymorphism (G→T) at position 559 in exon 4 of SLC35A3 gene. (researchgate.net)
This major gene polymorphism may now be studied using biochemical and molecular genetic techniques. (elsevierpure.com)
Patients and controls were genotyped for the A/C polymorphism at position −863 of the TNF-α gene promoter region. (molvis.org)
T gene polymorphism. (bvsalud.org)

This explains why some meta-analysis results beyond the "top 10,000" category are different on PDGene vs. those provided in our original publication and why the number of meta-analysis results differ slightly ( Nalls et al, 2014 ). (pdgene.org)
We estimated that around 10,000 intolerant and tolerant genes negatively affect intelligence when deleted, and less than 2% have large effect sizes. (hal.science)

[ 4 ] The 6 genes involved in WS are PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. (medscape.com)
Novel mutations of PAX3 , MITF , and SOX10 genes have been described in Chinese patients with WS1 or WS2. (medscape.com)

Gene haplotypes were inferred using PHASE version 2.1 ( 12 ). (cdc.gov)

The frequency of mutations in each gene and the most frequent mutations vary throughout populations. (nih.gov)
Inconsistencies might be caused by differences in study design, study populations (geographic and ethnic background), statistical methods and power, allele frequencies, and gene-environment interactions. (cdc.gov)

What pathways are this gene/protein implicaed in? (cancerindex.org)
Many genes involved in metabolic pathways have been found to contribute to lipid level variability [ 14 , 26 , 27 ]. (cdc.gov)

Most single gene disorders can be investigated by prenatal diagnosis using DNA extracted from cells obtained from amniocentesis at 16-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. (dorak.info)

Haplotype analysis excluded other possible homozygosity-by-descent regions and identified an 8.5-Mb interval encompassing 26 informative SNPs (defined by dbSNPs rs1398431 and rs2149636). (diabetesjournals.org)

In the present study, we reported a novel missense variant, V184A, which causes abnormal neuroligin 3 and was found with high frequency in the Indian autistic population. (genominfo.org)
Although a single abnormal gene may protect against malaria, inheritance of two abnormal genes leads to the haemoglobin disease state and confers no such protection. (who.int)

In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)

In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
It is also unknown if the effect of multigenic CNVs are driven by a few genes intolerant to haploinsufficiency or distributed across tolerant genes as well. (hal.science)
Statistical models used measures of intolerance to haploinsufficiency of genes included in CNVs to predict their effect size on intelligence. (hal.science)

To date, inheritance of a mutant BRCA1 or BRCA2 gene is the best-established indicator of an increased risk of developing breast cancer. (jci.org)
Seven mutant genes of Drosophila simulans have been shown to be allelomorphic to previously known mutant genes of D. melanogaster. (caltech.edu)
At present, about 5% of the world's population are carriers of a potentially pathological haemoglobin gene (i.e. healthy people who have inherited only one mutant gene from one parent). (who.int)

[ 6 ] Therefore, mutations in the PAX3 gene could affect regulation of the MITF gene, leading to abnormalities of melanocyte differentiation. (medscape.com)
[ 7 ] Sequencing and copy number analysis of both PAX3 and MITF should be considered as part of the routine molecular diagnostic evaluation of these patients. (medscape.com)

The increase in variability that is a familiar result of the rearing of second generations from crosses between different races is certainly due chiefly to segregation and recombination of genes in which the parental races differed. (caltech.edu)

Genome mapping has allowed genetic researchers to discover greater numbers of genes affecting common traits or conditions such as diabetes. (cedars-sinai.edu)

It is unclear how mutations in the TPM2 and MYBPC1 genes lead to the joint abnormalities characteristic of distal arthrogryposis type 1. (medlineplus.gov)

The workflow proposed can potentially enable all basic molecular biology laboratories to perform detailed targeted gene sequencing analysis in AML patients, in order to define the prognosis and the treatment. (mdpi.com)

A widely accepted theory is that human growth, development and disease occurrence depends upon a complicated interaction between inherited genes and interactions with the environment. (cdc.gov)

Additionally, a genetic network for the MKRN3 gene, mimicking a holistic regulatory depiction of the crosstalk between MKRN3 and other genes was designed. (frontiersin.org)
The sensitivity and specificity of such testing can now be improved as a result of the recent discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene. (cdc.gov)
The discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene (5) renewed interest in this possibility, as the sensitivity and specificity of testing could be improved through DNA-based testing. (cdc.gov)

Data on the inheritance of 27,766 CNVs showed that deletions and duplications with the same effect size on intelligence occur de novo at the same frequency. (hal.science)

Thirteen genes were recurrently mutated at different sites, forming compound heterozygotes or functionally related complexes within patients. (biomedcentral.com)

Omicia holds sole commercial rights to VAAST and is implementing it into the company's Genome Analysis System, a platform it is developing to clinically analyze human genomes. (genomeweb.com)

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
and 10 mitochondrial gene fragments ( 10 ). (cdc.gov)

In the study group, a number of the individuals with low IgD had rheumatologic disease (eg, juvenile rheumatoid arthritis, lupus, psoriatic arthritis, vasculitis), but the frequency of low IgD within groups of patients with each disease did not differ from the normal controls using chi-square analysis. (medscape.com)

Our data supports a strong genetic basis for CDD and show that CDD is not only genetically heterogeneous but also non-monogenic, requiring mutations in more than one genes for the disease to develop. (biomedcentral.com)

The partners described the Variant Annotation, Analysis, and Selection Tool, or VAAST, in a paper published last week in Genome Research . (genomeweb.com)
VAAST combines variant frequency information and AAS information into a single unified likelihood framework," Reese said. (genomeweb.com)
VAAST's ability to incorporate AAS information, meantime, sets it apart from variant aggregation approaches such as CMC and Kernel Based Adaptive Cluster methods, both of which were developed by researchers at Baylor university and recently incorporated into the sequence analysis module of Golden Helix' next-generation sequence analysis software ( BI 05/20/2011 ). (genomeweb.com)
Clonally variant gene expression (CVGE) lies at the base of a bet-hedging adaptive strategy consisting of the stochastic generation of phenotypic diversity followed by natural selection upon environmental changes (for a recent discussion on bet-hedging, see [14] ). (plos.org)
Understanding and accounting for this fact is critical in determining the frequency threshold at which a variant can be considered "greater than expected for disorder. (biomedcentral.com)

Previously Punjab Seed Council (PSC) and National Biosafety Committee (NBC) approved first ever locally developed double Bt genes cotton varieties i.e. (edu.pk)

There is a strong history of type 2 diabetes in carriers of the disease gene. (diabetesjournals.org)
For this particular example, regardless of the true underlying model, a sample size (N ≃ 450 for α = 0.05, N ≃ 1,500 for α = 0.0001) may be determined such that one would expect enough power (0.80) to detect at least one of the two disease genes. (wustl.edu)
Inheritance of the TNF-α (−863) C allele has been associated with an elevated risk of Alzheimer disease. (molvis.org)

While knowing a person's genetic risk for diabetes is not significantly more predictive than a lifestyle assessment (family history, age, BMI, etc.) in determining whether a patient will develop diabetes, identifying genes contributing to the inherited risks for diabetes affords a greater understanding of the disease's pathophysiology. (cedars-sinai.edu)
Visual acuity (VA) in children with LCA varies significantly among patients with differing gene mutations and can be as low as no light perception (NLP). (aao.org)

Anatomy5

Organisms6

Diseases8

Chemicals and Drugs35

Analytical, Diagnostic and Therapeutic Techniques and Equipment34

Psychiatry and Psychology2

Phenomena and Processes85

Disciplines and Occupations10

Anthropology, Education, Sociology and Social Phenomena3

Information Science7

Named Groups6

Health Care16

Geographicals3

Mutation11

Candidate genes4

Encode2

Chromosome13

Allele frequency7

Variants19

Mode of inheritance2

Susceptibility5

Proteins2

Phenotype1

Recessive4

Mutations in either2

Genetic Inheritance1

Loci6

Locus1

Modes of inheritance2

OMIM5

Genotypic1

Multiple genes2

Additional genes1

Genetics1

Heterozygous2

Datasets3

Patterns5

Alterations3

GWAS3

Autosomal dominant2

Evidence3

Polymorphisms3

Alleles2

Clinical7

Polymorphism5

10,0002

SOX102

Haplotypes1

Populations2

Pathways2

Diagnosis1

Haplotype1

Abnormal2

Penetrance1

Haploinsufficiency3

Mutant3

MITF2

Segregation1

Traits1

Characteristic1

Laboratories1

Interactions1

Regulatory3

Novo1

Compound1

Clinically1

Mitochondrial2

Differ1

Heterogeneous1

Variant5

Varieties1

Disease3

Significantly2