Analysis of dystrophin gene deletions by multiplex PCR in eastern India.

Abstract:

:The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2. In the present study DNA from seventy unrelated patients clinically diagnosed as having DMD/BMD referred from different parts of West Bengal, a few other states and Bangladesh are analyzed using the multiplex polymerase chain reaction (m-PCR) to screen for exon deletions and its distribution within the dystrophin gene. Out of seventy patients forty six (63%) showed large intragenic deletion in the dystrophin gene. About 79% of these deletions are located in the hot spot region i.e, between exon 42 to 53. This is the first report of frequency and distribution of deletion in dystrophin gene in eastern Indian DMD/BMD population.

journal_name

Neurol India

journal_title

Neurology India

authors

Basak J,Dasgupta UB,Banerjee TK,Senapati AK,Das SK,Mukherjee SC

doi

10.4103/0028-3886.27164

subject

Has Abstract

pub_date

2006-09-01 00:00:00

pages

310-1

issue

3

eissn

0028-3886

issn

1998-4022

journal_volume

54

pub_type

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