Almost immediately such familial genome sequencing proved its value, uncovering mutations responsible for diseases caused by
defects in a single gene.
«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.
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.
Not exact matches
«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.
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.
«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.
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.