14例非缺失型假性肥大型肌营养不良患者的分子鉴定  

Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions

作　　者：薛晋杰[1] 朱海燕[1] 邬玲仟[1] 梁德生[1] 潘乾[1] 龙志高[1] 戴和平[1] 夏昆[1] 夏家辉[1] 

机构地区：[1]中南大学中国医学遗传学国家重点实验室,长沙410018

出　　处：《中华医学遗传学杂志》2008年第6期633-636,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30571021）;国家“十一五”科技支撑项目（2006BA105A08）

摘　　要：目的对非缺失型假性肥大型肌营养不良（Duchenne／Becker muscular dystrophy，DMD／BMD）患者及其家族成员进行基因诊断，以提供准确的遗传咨询和产前诊断。方法应用变性高效液相色谱技术（denaturing high performance liquid chromatography，DHPLC）对14例DMD患者的DMD基因79个外显子及5’一非翻译区和3＇-非翻译区部分片段（共86个片段）进行检测，对检测到异源双峰的PCR产物进行测序。结果14例患者中共检出7种致病点突变（其中2种未见报道），14种已报道的多态改变和7种未报道的序列变异；其中5例患者的母亲为致病基因携带者。结论DHPLC技术可以对非缺失型DMD患者进行有效的基因诊断，并对家族女性成员进行携带者检测。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＇ -UFR and 3＇ -UTR of 14 Chinese DMD/Becker muscular dystrphy （BMD） patients without detectable gross deletions were screened by denaturing high perfonnance liquid chro- matography （DHPI/2） 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. Condusion DHPLC is an ef- ficient way of identifying point mutations and the female carriers in DMD families.

关 键 词：假性肥大型肌营养不良 点突变 变性高效液相色谱 携带者检测 

分 类 号：R686[医药卫生—骨科学]