Читать книгу Genetic Analysis of Complex Disease - Группа авторов - Страница 50

Another class of mutations involves the deletion or insertion of DNA into an existing sequence. Deletions or insertions may be as small as 1 bp, or they may involve one or many exons or even the entire gene. Even single bp deletions or insertions can have devastating effects, frequently by altering the reading frame of the DNA strand. A specific type of deletion/insertion mutation is a CNV. A CNV is structural variation in which kilobases to several megabases of DNA have been deleted or added and may encompass numerous genes. It is hypothesized that CNVs may account for 5–13% of the genome (Stankiewicz and Lupski 2010; Zarrei et al. 2015). Most CNVs are expected to be benign, while some are directly tied to a particular disease. Other CNVs may confer an increased risk for a particular condition, and much research is currently taking place about the role of CNVs in complex diseases.