Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions.
- Author:
Jinjie XUE
1
;
Haiyan ZHU
;
Lingqian WU
;
Desheng LIANG
;
Qian PAN
;
Zhigao LONG
;
Heping DAI
;
Kun XIA
;
Jiahui XIA
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Asian Continental Ancestry Group; genetics; Base Sequence; Child; Child, Preschool; DNA Mutational Analysis; Dystrophin; genetics; Exons; genetics; Female; Genetic Counseling; Genetic Testing; methods; Humans; Introns; genetics; Male; Muscular Dystrophy, Duchenne; diagnosis; genetics; Point Mutation; Polymorphism, Genetic; Pregnancy; Prenatal Diagnosis; Sequence Deletion; genetics
- From: Chinese Journal of Medical Genetics 2008;25(6):633-636
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSAll 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.
RESULTSSeven 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.
CONCLUSIONDHPLC is an efficient way of identifying point mutations and the female carriers in DMD families.
