Dystrophin gene analysis in Duchenne/Becker dystrophy in a Malaysian population using multiplex polymerase chain reaction
- Author:
Jin-Ai Mary Anne Tan
;
James Hsian-Meng Chan B
;
Kim-Lian Tan
;
Azlina Ahmad Annuar
;
Moon-Keen Lee
;
Khean-Jin Goh
;
Kum-Thong Wong
- Publication Type:Journal Article
- From:Neurology Asia
2010;15(1):19-25
- CountryMalaysia
- Language:English
-
Abstract:
Dystrophinopathy is the commonest form of muscular dystrophy and comprises clinically recognized
forms, Duchenne dystrophy and Becker dystrophy. Mutations in the dystrophin gene which consist of
large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing
the amount of functional dystrophin protein in skeletal muscle fi bres leading to fi bre destruction and
disease. The aims of this study are to investigate the detection rate, types and distribution of large
gene deletions in Malaysian dystrophinopathy patients using the multiplex polymerase chain reaction
(MPCR). MPCR of 18 “hot-spot deletion” regions along the dystrophin gene was performed on DNA
from 48 muscle biopsy-confi rmed cases of dystrophinopathy. A positive detection rate of 58% (28/48)
was observed, where 84% (16/19) Indian, 35% (6/17) Chinese and 50% (6/12) Malay ethnic groups
showed deletions in their dystrophin genes. The Malaysian Indians appear to have a higher prevalence
for large gene deletions compared to the Chinese and Malays. Further analyses of 42 confi rmed
positive cases (present 28 plus previous 14 cases) by MPCR showed the majority of deletions were
in the mid-distal region of the dystrophin gene (81% in exons 45-60). The MPCR is a specifi c and
sensitive method for confi rmation of gene deletions responsible for dystrophinopathy.
- Full text:P020150824464075980538.pdf
