title: Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.
abstract: We undertook the clinical feature examination and dystrophin analysis using multiplex ligation-dependent probe amplification (MLPA) and direct DNA sequencing of selected exons in a cohort of 35 Malaysian Duchenne/Becker muscular dystrophy (DMD/BMD) patients. We found 27 patients with deletions of one or more exons, 2 patients with one exon duplication, 2 patients with nucleotide deletion, and 4 patients with nonsense mutations (including 1 patient with two nonsense mutations in the same exon). Although most cases showed compliance to the reading frame rule, we found two unrelated DMD patients with an in-frame deletion of the gene. Two novel mutations have been detected in the Dystrophin gene and our results were compatible with other studies where the majority of the mutations (62.8%) are located in the distal hotspot. However, the frequency of the mutations in our patient varied as compared with those found in other populations.
authors: Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, Kelantan, Malaysia.
authors: Abdul Qawee
authors: AQ
authors: Rani
authors: Teguh Haryo
authors: TH
authors: Sasongko
authors: Sarina
authors: S
authors: Sulong
authors: David
authors: D
authors: Bunyan
authors: Abdul Razak
authors: AR
authors: Salmi
authors: Bin Alwi
authors: BA
authors: Zilfalil
authors: Masafumi
authors: M
authors: Matsuo
authors: Z A M H
authors: ZA
authors: Zabidi-Hussin
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008296:Malaysia; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000097:blood / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D016189:Dystrophin; D003402:Creatine Kinase