High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays.

ABSTRACT:

Background

The use of resequencing microarrays for screening multiple, candidate disease loci is a promising alternative to conventional capillary sequencing. We describe the performance of a custom resequencing microarray for mutational analysis of Congenital Myasthenic Syndromes (CMSs), a group of disorders in which the normal process of neuromuscular transmission is impaired.

Methodology/principal findings

Our microarray was designed to assay the exons and flanking intronic regions of 8 genes linked to CMSs. A total of 31 microarrays were hybridized with genomic DNA from either individuals with known CMS mutations or from healthy controls. We estimated an overall microarray call rate of 93.61%, and we found the percentage agreement between the microarray and capillary seq

SUBMITTER: Denning L 

PROVIDER: S-EPMC1975473 | biostudies-literature | 2007 Sep

REPOSITORIES: biostudies-literature