[Analysis of short tandem repeat polymorphism in a female patient with Duchenne muscular dystrophy].
OBJECTIVE
To understand the mechanism of Duchenne/Becker muscular dystrophy (DMD) in a female patient.


METHODS
A multiplex PCR (mPCR) protocol was applied to detect the dystrophin gene of the female DMD patient and her family members, whose haplotypes were analyzed in light of short tandem repeat polymorphism (STR) of five microsatellite markers (located in 5' terminus and introns 44, 45, 49, and 50).


RESULTS
No deletion was detected in the affected female patient and her affected son. Examination of the female DMD patient's STR haplotypes identified in the female patient and her affected son the same haplotype inherited from her unaffected mother, who was a likely germinal mosaicism. The female patient has different haplotype from her affected son and her mother as a deletion was identified in the intron 45 of the affected son, and the female patient and her mother were probably heterozygous for this deletion.


CONCLUSIONS
STR haplotype may not be responsible for the pathogenesis of DMD in the female patient and her affected son.
Huang
Wen
W
Department of Neurology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China.
Zhang
Cheng
C
Chen
Song-lin
SL
Feng
Hui-yu
HY
Zeng
Ying
Y
Yao
Xiao-li
XL
Lu
Xi-lin
XL
D005260:Female; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020080:Tandem Repeat Sequences