CAJ | 학술논문

目的探讨杜氏肌营养不良症(Duchenne muscular dystrophy,DMD)患者家系致病基因突变的检测及产前诊断方法.方法联合采用变性高效液相色谱、多重PCR、PCR测序和其它分子生物学技术,对8个家系中杜氏肌营养不良症患者进行诊断,对女性亲属进行携带者筛查,进行遗传咨询和产前诊断.结果 8例诊断为DMD的患者中,4例为大片段缺失,3例为点突变,患者中6例为新生突变.对5个家系进行产前诊断,抽取羊水或者绒毛组织进行检测,结果显示胎儿均正常,抽取脐带血复查肌酸激酶值,出生后进行临床鉴定,与产前诊断结论一致.结论联合应用短串联重复序列分析、变性高效液相色谱技术、多重PCR技术和基因测序技术,可以提高DMD基因检测的准确率,为DMD家系成员的遗传咨询和产前基因诊断提供准确的依据,避免患病胎儿的出生.
목적 탐토두씨기영양불량증(Duchenne muscular dystrophy,DMD)환자가계치병기인돌변적검측급산전진단방법.방법 연합채용변성고효액상색보、다중PCR、PCR측서화기타분자생물학기술,대8개가계중두씨기영양불량증환자진행진단,대녀성친속진행휴대자사사,진행유전자순화산전진단.결과 8례진단위DMD적환자중,4례위대편단결실,3례위점돌변,환자중6례위신생돌변.대5개가계진행산전진단,추취양수혹자융모조직진행검측,결과현시태인균정상,추취제대혈복사기산격매치,출생후진행림상감정,여산전진단결론일치.결론 연합응용단천련중복서렬분석、변성고효액상색보기술、다중PCR기술화기인측서기술,가이제고DMD기인검측적준학솔,위DMD가계성원적유전자순화산전기인진단제공준학적의거,피면환병태인적출생.
Objective To optimize the methods for genetic detection and prenatal diagnosis of Duchenne muscular dystrophy (DMD).Methods Denaturing high-performance liquid chromatography (DHPLC),multiplex PCR (mPCR),sequencing and other molecular techniques were used in combination for molecular diagnosis of 8 cases diagnosed as DMD.Results Among the 8 cases,4 have carried large deletions,3 have point mutations,among which 6 were of de novo type.Prenatal diagnosis were offered for 5 families,the results showed that none of the fetuses had carried large deletions or point mutations.The pregnancies had continued and healthy babies were born.Conclusion Combined use of short tandem repeat,DHPLC,mPCR and sequencing can improve the detection of DMD gene mutations.By establishing and optimizing genetic and prenatal diagnostic methods,accurate genetic counseling can be provided for families affected with DMD.