Comparative‑high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations.

ABSTRACT: Efficient and cost-effective screening for DNA sequence changes, both small mutations and copy number variations (CNVs), is a crucial aspect for routine genetic diagnostics as well as for basic research. In this study we present a development and evaluation of comparative-high resolution melting (C-HRM), a new approach for the simultaneous screening of small DNA changes and gene CNVs. In contrast to other methods, relative quantification in C-HRM is based on the results obtained during the melting process and calculations of the melting peak height ratio in the multiplex reaction. Validation of the method was conducted on DNA samples from 50 individuals from Duchenne muscular dystrophy (DMD) families, 50 probands diagnosed with familial adenomatous polyposis and a control group of 36 women

SUBMITTER: Borun P 

PROVIDER: S-EPMC3984413 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature