Sentences with phrase «disease alleles»
The phrase "disease alleles" refers to specific versions of genes that can increase the risk of developing a particular disease or disorder. These alleles may carry genetic variations that make an individual more vulnerable to certain health conditions. Full definition
The identification of a single disease allele in 3 related myeloid diseases suggests that the JAK2V617F mutation may be important in the pathogenesis of additional hematopoietic malignancies.
bloodjournal.org
Performing genetic studies in multiple human populations can identify disease risk alleles that are common in one population but rare in others, with the potential to illuminate pathophysiology, health disparities, and the population genetic origins of disease alleles.
Some disorders appear linked to common ancestors providing insight into disease allele origin whereas others may be due to selection for common structural morphology.
In fairness, I had a fairly unexciting 23andMe profile, absent of hidden Mendelian disease alleles or high - penetrance variants for late onset disease.
We did not identify the JAK2V617F disease allele in B - lineage ALL (n = 83), T - cell ALL (n = 93), or CLL (n = 45).
However, it took whole - genome sequencing to identify the second disease allele, a heterozygous ~ 55 kb deletion spanning at least three other exons in the gene.
The benefit seemed to be particularly pronounced in individuals with the apolipoprotein E-e4 allele, a genetic marker associated with late - onset Alzheimer's, which usually happens after the age of 65, and is the most common type of the disease
Variation in genetic background may alter expression of the disease allele in affected animals, thus accounting for variation in phenotypic expression of the disease.