Sentences with phrase «copies of the gene variants»

Of these, 43 people carried at least one copy of the gene variant.

We screened a total of 394 Amish research subjects for the KCNH7 mutation; 84 of these individuals carried at least one copy of the gene variant, and the lifetime incidence of bipolar spectrum disorders among them was 49 percent (41 people were affected with the disease).

The researchers found that people who have more copies of the gene variants (by inheriting a copy of each advantageous variant from both parents), had the least amount of oxygen in their blood and used it more efficiently than people without either variant, or only one copy from one parent.

Tests may be ordered specifically looking for carrier status, identifying people who carry one copy of a gene variant that can be passed on to a child.

About 35 % of Americans have one or two copies of this gene variant, inherited from one or both parents.

If you have two copies of this gene variant, you metabolize caffeine much slower than «fast» caffeine metabolizers.

Not exact matches

Since all people have two copies of every gene, combinations of the TAS2R8 gene variants determine whether someone tastes bitter foods intensely.

But a faulty variant of this gene arose six generations ago in an Amish group, causing the people who carry one copy of the variant to produce half as much of the age - promoting protein.

The researchers looked at a type of genetic change called copy number variants, which refers to the number of copies of genes in human DNA.

New genome - sequencing research suggests white European people with two copies of variant forms of MC1R, a gene linked to pale skin and red hair, have faces that appear up to two years older than those who are the same age but don't have both copies.

Participants carrying two copies of one variant within the PRKCA gene, dubbed the A allele, remembered the most details about the pictures.

Having only one variant copy of the gene gives people the appearance of looking about one year older on average, the team of Dutch and British researchers concluded.

Birds that have two copies of the large - beak variant of the gene have big beaks, while two copies of the small - beak variant produce little beaks.

Having just one copy of a particular variant of a gene called CREBRF is associated with a 1.5 increase in BMI.

More than one quarter of children with two copies of a high - risk variant in a specific group of genes develop an early sign of celiac disease called celiac disease autoimmunity (CDA) by age 5.

Results from the analysis confirmed previous findings of some copy number variants already associated with autism, but they also found a host of other genes (SHANK2, SYNGAP1, DLGAP2 and the X chromosome — linked DDX53 - PTCHD1 locus) in which mutations seem to be linked to autism.

People who have one copy of the APOE gene variant e4 have a three times greater risk of developing AD.

Affected individuals do not have a disease: they only carry 1 copy of a hemoglobin gene variant, and unlike individuals with 2 copies of the variant, they do not experience symptoms.

Those differences led to lower levels of the IFITM3 protein in ndividuals with two copies of the high - risk gene variant compared to other patients, researchers said.

For the new mouse model, the researchers exposed adolescent mice with at least one copy of a variant of the BDNF gene, which has been associated with anorexia and anxiety in mice and humans, to social stress and caloric restriction.

The authors conclude that valproate may be effective for treating negative symptoms in psychiatric patients with two copies of the «Val» variant of the COMT gene, which breaks down dopamine in the brain.

But a faulty variant of this gene arose six generations ago in an Amish group, causing the people who carry one copy of the variant to produce half as much of the protein.

A few people turned out to have either the Amish APOC3 mutation or one of three other variants in APOC3 that also disable this copy of the gene.

The researchers also found that these copy number variants occurred more frequently in genes involved in the function of synapses, the connections between brain cells that transmit chemical messages.

A copy number variant may affect dozens of genes, or it can disrupt or duplicate a single gene.

In this study, the authors assessed the impact of SNPs, inherited copy number variants (CNVs), and acquired copy number alterations (CNAs) on the gene expression landscape.

The investigators found that people who carry a single copy of the KL - VS variant of the KLOTHO gene, roughly 20 percent of the population, have more klotho protein in their blood than non-carriers.

The researchers found that people who carry a single copy of the KL - VS variant of the KLOTHO gene perform better on a wide variety of cognitive tests.

Until now, however, individuals who are born with defective copies of the gene (germline variants) have been found extremely rarely, only in families with cancer predisposition syndromes, Li Fraumeni syndrome (LFS) and Li - Fraumeni - like syndrome (LFL).

In this study, Teitell and his team sought to determine copy number variants (CNVs), or differences in the numbers of certain genes, in two embryonic stem cell lines.

Using DECoN (which stands for Detection of Exon Copy Number variants), the researchers took advantage of the high density of sequencing data available in new gene panels to accurately detect deletions or duplications of exons.

A carrier for a recessive condition is asymptomatic and has a pathogenic genetic variant in just one of their two copies of the associated gene.

«The variant that we discovered is common: Most people have one or two copies of the version of the gene that is linked to accumulating more pathology as you get older,» said lead author Dr. Lori Chibnik of Brigham and Women's Hospital.

In an individual with a recessive disease, both copies of the gene have variants associated with disease.

This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.

Molecular profiling of large tumour numbers has also allowed the annotation of more than 13 million non-coding mutations, 18 029 gene fusions, 187 429 genome rearrangements, 1 271 436 abnormal copy number segments, 9 175 462 abnormal expression variants and 7 879 142 differentially methylated CpG dinucleotides.

By performing a meta - analysis of rare coding variants in whole - exome sequences from 4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 controls, we show that individuals with schizophrenia carry a significant burden of rare, damaging variants in 3,488 genes previously identified as having a near - complete depletion of loss - of - function variants.

By analyzing genome sequence data from human populations, including 1269 individuals from sub-Saharan Africa, we identify a diverse array of large copy number variants affecting the host invasion receptor genes GYPA and GYPB We find that a nearby association with severe malaria is explained by a complex structural rearrangement involving the loss of GYPB and gain of two GYPB - A hybrid genes, which encode a serologically distinct blood group antigen known as Dantu.

These folks carry two copies of a variant of the MC1R gene, which determines our hair and skin color.

You can blame your DNA: In a Current Biology study published last year, Dutch researchers found that adults who carried two copies of the MC1R gene variant typically appeared two years older than other white adults of the same age.

Evidence for multiple copies of the salivary amylase gene in high starch eating Asians, and a gene variant that is important for breaking down fats in plant foods in Europeans and Middle Easterners may reflect an adaption to agriculture (Hancock et al, 2010).

The Curly Hair test: The Curly Hair test allows one to determine the genotype of a tested dog as being normal / clear of the KRT71 mutation (i.e. having two copies of the normal gene); a carrier of one copy of the mutation; or a homozygote for the KRT71 mutation (i.e. having two copies of the mutant variant).

Each pup that is born to a dog with the harlequin coat color has a 50 % chance of inheriting one copy of the PSMB7 gene variant (H) and having a harlequin coat color.

Puppies with two copies of the PSMB7 gene variant (H / H) most likely die very early in gestation; therefore, breeding two dogs with harlequin coat color (H / h) may result in reduced litter size.

A dog with two variant copies of the MLPH gene will have a blue, charcoal, Isabella (lilac) or fawn coat color depending on the other coat color genes present in the individual.

The study researchers found some 30 percent of Labrador retrievers carry the mutant gene though they may not show symptoms since they don't carry two copies of the dynamin 1 variant.