[Gene Mutation Spectrum Analysis of 170 Patients with Duchenne/Bayesian Muscular Dystrophy in Southwest of China].
OBJECTIVE
To determine gene variations and genotype-phenotype correlations in Duchenne/Bayesian muscular mystrophy (DMD/BMD) patients, and the association between dystrophin gene polymorphisms and clinical phenotype.


METHODS
Multiplex ligation-dependent probe amplification (MLPA) was adopted to detect dystrophin gene variations in 170 patients. Sanger sequencing was performed in 3 cases with decreased peaks in MLPA results.


RESULTS
The MLPA detected 72.94% mutations in dystrophin gene, including 62.35% (106/170) deletions, 8.82% (15/170) duplications, and 1.76% (3/170) point mutations. 64 different types of mutations were found. 75.47% of deletions occurred in the range from exon 44 to 55. Most 5' breakpoints of exonic variations were located in 2 hotspots (major hotspot: intron 43-55; minor hotspot: intron 1-20), which is different from findings of other studies. Genotype-phenotype analysis showed that the severity of DMD/BMD was associated with frame shift mutation (r = 0.640, P < 0.001) but not with deletions or duplications.


CONCLUSIONS
Deletions and duplications of exon compose the main type of dystrophin gene mutations. DMD/BMD is associated with frame shift mutation.
Jun
J
Wang
Wu
W
Peng
Xue-jiao
XJ
Hu
Meng-qiao
MQ
Shang
Juan
J
Zhou
Yi
Y
Zhou
Yuan-xin
YX
Ye
Xing-bo
XB
Song
Xiao-jun
XJ
Lu
Bin-wu
BW
Ying
D002681:China; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D056726:Genetic Association Studies; D006801:Humans; D007438:Introns; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic
D016189:Dystrophin