CAJ | 학술논문

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'-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种末见报道),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.
목적 대비결실형가성비대형기영양불량(Duchenne/Becker muscular dystrophy,DMD/BMD)환자급기가족성원진행기인진단,이제공준학적유전자순화산전진단.방법 응용변성고효액상색보기술(denaturing high performance liquid chromatography,DHPLC)대14례DMD환자적DMD기인79개외현자급5'-비번역구화3'-비번역구부분편단(공86개편단)진행검측,대검측도이원쌍봉적PCR산물진행측서.결과 14례환자중공검출7충치병점돌변(기중2충말견보도),14충이보도적다태개변화7충미보도적서렬변이;기중5례환자적모친위치병기인휴대자.결론 DHPLC기술가이대비결실형DMD환자진행유효적기인진단,병대가족녀성성원진행휴대자검측.
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/Beeker 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.Conclusion DHPLE is an efficient way of identifying point mutations and the female carriers in DMD families.