Sentences with phrase «nucleotide mutations within»

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.

Not exact matches

Silent mutations occur when the change of a single DNA nucleotide within a protein - coding portion of a gene does not affect the sequence of amino acids that make up the gene's protein.

The researchers zeroed in on a single - nucleotide polymorphism (SNP) that appeared to be the causal mutation, typically consisting of an adenine nucleotide but appearing as a guanine nucleotide in roughly a third of the population, located in a region of noncoding DNA that falls within the PHACTR1 gene.

Moreover, given that point mutations are acquired through DNA copy - errors (and / or failure of DNA damage repair mechanisms) during replication, preferentially within the paternal germline, a detailed knowledge of these basic biological processes is key to understanding the patterns of nucleotide substitutions.

Whole genome association analysis studies that utilize single nucleotide polymorphism (SNP) markers have been used to identify the molecular causes of various traits and conditions including genetic mutations within breeds that cause coat color variations [15], hairlessness [25] and defects in spinal development [26].