Objective To investigate the distribution feature of dystrophin gene deletion mutations in Chinese Han Duchenne/Becker muscular dystrophy (DMD/BMD)pediatric patients. Methods Determination of deletion mutation in dystophin gene of 964 DMD/BMD suspected pediatric patients was performed by amplifying 20 segments of major deletion “hot spot” region with polymerase chain reaction (PCR).The deletion pattern of dystophin gene was consequently summarized and the distribution of breakpoints of dystophin gene deletion mutation was also analyzed.Results The total 491cases (51.0%) had confirmed deletion mutations. Mutations in 75 cases (15.2%) located in the region of 5’-flanking region, 402 cases (81.7%) in the region of central region,and 13 cases (2.6%) deletions span in both 5’-flanking and central regions.The most common deletions including exon 50, 49 and 48 deletions ranked the top. 74％of deletion breakpoints fell in introns 44~50 in dystophin gene, in which about 21% of deletion breakpoints fell in intron 44. Conclusion The study indicates that more than half of suspected DMD/BMD cases are confirmed deletion mutation in dystophin gene. Deletion mutations are mostly distributed in the central region of DMD gene in Chinese Han pediatric population.
GUO Ya-jie
,
WANG Yong-hong
,
TONG Yue-juan
,
SHEN Chen
. Analysis of Deletion Mutation in Dystophin Gene of Duchene/Becker Muscular Dystrophy Suspected Pediatric Patients[J]. Labeled Immunoassays and Clinical Medicine, 2013
, 20(3)
: 172
-175
.
DOI: 10.11748/bjmy.issn.1006-1703.2013.03.016
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