Sentences with phrase «mutations on both copies»

But all of the deaf children carried mutations on both copies of the gene.

Not exact matches

The mutation is on the X chromosome so female children with two X chromosomes should have at least one functioning copy of the gene.

Those with two copies of a mutation in the NRG1 gene, linked to psychosis, scored higher on creativity than volunteers with one or no copies of the mutation (Psychological Science, DOI: 10.1111/j.1467-9280.2009.02398.x).

Mice with two copies of this mutation (one on each chromosome) are white; those with just one copy are significantly lighter than wild - type mice.

And last year, Szabolcs Kéri at Semmelweis University in Hungary found that people with two copies of the mutation scored higher on a creativity test than people...

The specific mutations that the researchers observed are «dominant negative» mutations, meaning, when present on even one copy of P53, they are able to compromise the function of the normal protein, whose components are made from both gene copies.

Researchers also hope to gather information on healthy people who have mutations in both copies of a gene that make it nonfunctional.

Since people with a mutant copy of the MYBPC3 gene have a 50 percent chance of passing it on to their own children, being able to correct the mutation in embryos would prevent the disease not only in affected children, but also in their descendants.

mutation (s) of a gene loss of a copy or reduced expression of a gene increased expression of a gene reliance on a gene functionally or structurally related to another, lost gene (a.k.a., a paralog dependence)

About the same time, scientists at Cold Spring Harbor Laboratory in Long Island, N.Y., focusing on families with one autistic child, reported that an estimated 10 to 30 percent of all reported cases of autism may be caused by new (or spontaneous) mutations in the number of copies of genes in children (that were not found in either parent).

Since genes in our chromosomes are very, very much better protected from mutations than the mitochondrial DNA is, we can rely on the chromosomal copies carrying on working in very nearly all our cells for much longer than a currently normal lifetime.

Moreover, the proportion of mutations due to random copying errors varies depending on the cancer, the researchers said.

Although their copy - number methods are based on «read» density, there are classes of mutations that require analysis at the level of the read.

«Historically, we have had trouble modeling human diseases caused by mutation of just one copy of a gene in mice, which impedes research on complex conditions and limits our discovery of therapeutics,» explained Srivastava, director of the Gladstone Institute of Cardiovascular Disease and senior author on the study.

To demonstrate that the defective phenotype of ospC7 was due to the lack of OspC and to determine whether reintroduction of ospC was sufficient to restore mouse infectivity, we complemented the ospC mutation in ospC7 by integrating a WT copy of ospC adjacent to the mutated ospC gene on cp26 (Fig. 1).

However, being a complex multistep process, cancer cytogenetics are broadened to «cytogenomics,» with complementary resources on: general databases (nucleic acid and protein sequences databases; cartography browsers: GenBank, RefSeq, UCSC, Ensembl, UniProtKB, and Entrez Gene), cancer genomic portals associated with recent international integrated programs, such as TCGA or ICGC, other fusion genes databases, array CGH databases, copy number variation databases, and mutation databases.

The dog will display symptoms associated with the disorder and will always pass on a copy of the mutation to any offspring.

Aussie has one copy of a mutation associated with reduced ALT activity as measured on veterinary blood chemistry panels.

Dog is a carrier for the MLS mutation and can pass on a copy of the defective gene to its offspring 50 % of the time.

DNA test results will indicate if the cat has the mutation on 1 copy of its 2 gene copies (called heterozygous) or both gene copies (homozygous).

Dog is a carrier for the CMR mutation and can pass on a copy of the defective gene to its offspring 50 % of the time.

Carriers of one copy of the mutation (heterozygotes) will not show disease but they can pass the mutation on to their offspring.

Dog is a carrier for the Skeletal Dysplasia 2 mutation, and can pass on a copy of the defective gene to its offspring 50 % of the time.

The severity of the reaction depends on whether the dog inherits one or two copies of the mutation, and the breeds most commonly found with the mutations include herding dogs, such as collies and Australian shepherds.

Dogs with one copy of the mutation should be bred to clear - tested mates with preference given to clear - tested offspring to carry on with.

Since both types of HSF4 mutations have profound deleterious effects on vision when two copies of the mutation are present, it is recommended that at least one member of a breeding pair has been DNA tested as Normal / Clear of the mutation.

A study based on 392 Australian Shepherds indicates that about 50 % of dogs carrying one copy of the deletion develop bilateral posterior cataracts when they are about 5 years old, while homozygotes (i.e. dogs carrying two copies of the HSF4 - 2 mutation) are more likely to develop a nuclear form of cataract that typically progresses to complete cataract (2).