Sentences with phrase «nucleotide mutations»
"Nucleotide mutations" refer to changes or alterations that occur in the building blocks of DNA or RNA, also known as nucleotides. These mutations can involve substitutions, deletions, or insertions of nucleotides, which can lead to genetic variations or errors in the genetic code. These changes can affect the functions of genes, potentially leading to various genetic disorders or diseases. Full definition
One mutation, which is complete deletion of the CNGB3 gene, affects Malamutes and Australian Shepherds, while a different single nucleotide mutation in the same gene causes Cone Degeneration in the GSHP breed.
optigen.com
Pea plants with a single nucleotide mutation in the gene produce a sluggish form of the enzyme and consequently grow short.
Synonymous / nonsynonymous substitution mutation analyses revealed that the majority of nucleotide mutations yielded synonymous amino acids, indicating the presence of purifying selection pressure across the polyprotein with pockets of positive selection also being detected.
The MGH investigators screened the genomes of 40 individuals with arhinia and 55 family members, from a total of 38 families, revealing rare single - nucleotide mutations within the SMCHD1 gene in 84 percent of affected individuals.
While Wells screened the Central Asian Y chromosomes for single - nucleotide mutations such as M45, Zerjal searched for a different DNA variable called a microsatellite.
The NAD mutation test: A single nucleotide mutation in the PLA2G6 gene has been identified that is significantly associated with this form of Neuroaxonal Dystrophy (1).
The researchers determined that CRISPR had successfully corrected a gene that causes blindness, but Kellie Schaefer, a PhD student in the lab of Vinit Mahajan, MD, PhD, associate professor of ophthalmology at Stanford University, and co-author of the study, found that the genomes of two independent gene therapy recipients had sustained more than 1,500 single - nucleotide mutations and more than 100 larger deletions and insertions.
«We now have the opportunity to employ new genomic technologies that will allow us to move beyond the discovery of single nucleotide mutations.