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Gene diagnosis of Oculopharyngeal muscular dystrophy in a Chinese family by a genescan method

✍ Scribed by Pan You; Qilin Ma; Tao Tao

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 233 KB
Volume: 24
Category: Article
ISSN: 0887-8013
DOI: 10.1002/jcla.20423

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✦ Synopsis

Abstract

This study aims to perform gene diagnosis for Chinese family patients with Oculopharyngeal muscular dystrophy (OPMD). Genomic DNAs were extracted from the pedigrees' members. Gene diagnosis was performed for these pedigrees' members by approaches, such as DNA sequencing and GeneScan. Sequence analysis and PABPN1 genotyping showed that the mutated allele in affected members of this familyhas nine trinucleotide repeats of GCG (GCG)~9~, whereas the normal allele contains six trinucleotide repeats of GCG (GCG)~6~. The above results suggest that mutated GCG repeats in PABPN1 gene may cause OPMD in this family, and PABPN1 genotyping could be used as a convenient, highly effective, and reliable gene diagnostic test for OPMD patients. J. Clin. Lab. Anal. 24:422–425, 2010. © 2010 Wiley‐Liss, Inc.

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