FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease.

ABSTRACT:

Background

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease associated with contraction of arrays of tandem 3.3-kb units (D4Z4) on subtelomeric 4q. Disease-linked arrays usually have fewer than 11 repeat units. Equally short D4Z4 arrays at subtelomeric 10q are not linked to FSHD. The newly described 4qA161 haplotype, which is more prevalent in pathogenic 4q alleles, involves sequences in and near D4Z4.

Methods

We developed two new assays for 4qA161, which are based upon direct sequencing of PCR products or detecting restriction fragment length polymorphisms. They were used to analyse single nucleotide polymorphisms (SNPs) indicative of 4q161 alleles.

Results

All (35/35) FSHD patients had one or two 4qA161 alleles (60% or 40%, respectively

SUBMITTER: Tsumagari K 

PROVIDER: S-EPMC3043595 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature