Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

ABSTRACT:

Background

Recent methodological advances have improved the detection rate for dystrophin mutations, but there are no published studies that have measured the clinical utility of these protocols for carrier detection compared with conventional carrier testing protocols that use pedigree, serum creatine kinase levels and linkage analysis.

Methods and subjects

The clinical utility of a combined mutation detection protocol was measured. It involved quantitative PCR procedures followed by DNA sequence analysis for the identification of dystrophin mutation carriers in 2101 women at risk of being carriers from 348 mutation-known Duchenne or Becker muscular dystrophy pedigrees.

Results

The combined mutation detection protocol identified a mutation in 96% and 82% of index cas

SUBMITTER: Taylor PJ 

PROVIDER: S-EPMC2740880 | biostudies-literature | 2007 Jun

REPOSITORIES: biostudies-literature