[Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions].
OBJECTIVE
To search for the dystrophin gene mutations of Duchenne muscular dystrophy (DMD) patients without gross deletions, in order to offer accurate genetic counseling and prenatal diagnosis for those families.


METHODS
All 79 exons of the dystrophin gene as well as its 5'-UTR and 3'-UTR of 14 Chinese DMD/Becker muscular dystrphy (BMD) patients without detectable gross deletions were screened by denaturing high performance liquid chromatography (DHPLC) and heteroduplex fragments were identified by subsequent sequencing.


RESULTS
Seven causative point mutations, including two novel ones, were detected in 7 patients. Fourteen known polymorphisms and 7 unknown intronic variations were also detected. Five mothers of the patients were obligate carriers.


CONCLUSIONS
DHPLC is an efficient way of identifying point mutations and the female carriers in DMD families.
Xue
Jinjie
J
National Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, P. R. China.
Zhu
Haiyan
H
Wu
Lingqian
L
Liang
Desheng
D
Pan
Qian
Q
Long
Zhigao
Z
Dai
Heping
H
Xia
Kun
K
Xia
Jiahui
J
D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017384:Sequence Deletion / Q000235:genetics*
D016189:Dystrophin