Sentences with phrase «single gene defect»
«Most PRAs, including the one in Phalenes and Papillons, are recessive and caused by single gene defects and small sample numbers can lead to breakthroughs.
https://www.sciencedaily.com/ Not exact matches
Almost immediately such familial genome sequencing proved its value, uncovering mutations responsible for diseases caused by defects in a single gene.
Using a combination of old - fashioned clinical observation and modern biochemical analysis, he has shown that a person's appetite and their eating behavior can be linked to specific genes — and that even a tiny defect such as the absence of a single nucleic acid in a sequence of DNA can lead to runaway weight gain.
His suspicionswas confirmed: the children had an identical defect — a missing single nucleic acid, called guanine — in the gene coding for leptin.
Allan - Herndon - Dudley syndrome is caused by defects to a single gene that controls the flow of thyroid hormone to the brain.
«This is an important finding that will help future researchers, and eventually physicians, to maximize the effectiveness of gene therapy for curtailing sensory deficits associated with USH3 syndrome and, perhaps, in other disorders linked to defects in single genes,» said Alagramam.
«Because individuals carrying a single mutant copy of a gene often mate with an individual with two normal copies of gene, defects can be hidden for a generation and then show up in the grandchildren,» Bier adds.
Howard Hughes Medical Institute (HHMI) researchers have identified subtle defects in a single gene that underlie a hereditary form of age - related macular degeneration, the leading cause of...
What's more, inherited diseases can arise from a problem with one gene (a simple example is sickle - cell anemia, a condition caused by defects in a single gene that makes the hemoglobin protein), or from interactions among a range of genetic variations as well as, frequently, environmental stresses.
Approximately 3 percent of children born in the United States have a birth defect, either due to chromosomal anomalies, single - gene syndromes, or another cause.
A single defect in a gene that codes for a histone — a «spool» that wraps idle DNA — is linked to pediatric cancers in a study published today in the journal Science.
Since all dogs with CEA have CH it can be managed in the same way one would manage any single gene recessive trait even though other as - yet unidentified genes cause the more serious defects.
Ultimately he discovered that the recessive nature of the disease is due to a single gene of major effect that causes choroidal hypoplasia, the primary CEA defect.