Sentences with phrase «homozygous mutations»
"homozygous mutations" refers to when an individual has two copies of a gene with the same abnormal or altered version, resulting in a genetic mutation. Full definition
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS).
rd-neuromics.eu
«We show that diploids adapt more slowly than haploids, that ploidy alteres the spectrum of beneficial mutations, and that the prevalence of homozygous mutations depends on their genomic position,» says Marad.
A study of Valleix et al. (2006) identified homozygous mutation of FOXE3 gene on 1p33 chromosome in three brothers with aphakia born by consanguineous parents.
But in the course of their work, the team noted a potential hiccup for CRISPR work on homozygous forms of the disorder — it may be extremely difficult to repair homozygous mutations once they are edited out because they would not have those built - in blueprints for what they should look like.
Gantz and Bier developed a method they call mutagenic chain reaction (MCR) that autocatalytically produces homozygous mutations.
Intriguingly, an identical homozygous mutation was identified in a human patient with recessive retinitis pigmentosa, the human equivalent of PRA, and established the novel retinal gene, PRCD, as an important gene for the maintenance of rod photoreceptor structure and function across species.
However, the prevalence of homozygous mutations and total gene mutations among patients with recurrent miscarriage was significantly higher than among controls.
From everything I've read the answer seems to be that if you have homozygous mutations: possibly; if you have RPL: probably; if you have MTHFR mutations plus other diagnosed thrombotic issues: definitely.
Homozygous mutations were found in 59 % of women with a history of recurrent pregnancy loss contrasted to 10 % of control women.
The mutagenic chain reaction: A method for converting heterozygous to homozygous mutations.
The Weill Cornell researchers studied more than 500 Crohn's disease patients and found that those who carry a homozygous mutation in the CX3CR1 gene have a reduced gut antifungal response much like that seen in the mice lacking CX3CR1 + phagocytes.
Hutterite - type cataract maps to chromosome 6p21.32 - p 21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.
Sequence analysis of DNA samples from 78 patients with CMML / aCML samples identified heterozygous JAK2V617F mutations in 7 samples and a homozygous mutation in 1 sample.