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目的从分子水平探讨Huntington舞蹈病(HD)的发病机制,明确亨廷顿病家系基因突变情况,从而为该家系的基因诊断和遗传咨询提供科学依据。方法应用巢式PCR、琼脂糖凝胶电泳等方法,在分子水平上检测IT15基因中(CAG)n的扩增片断长度,对一家族性HD家系中的患者、HD症前高风险成员及正常家庭成员进行基因诊断。结果正常成员显示1条扩增区带,约100bp;HD患者除有1条正常扩增片断(约100bp)外,还有一异常的长约200bp的扩增片断;HD症前高风险成员中检出2个HD基因携带者,扩增片断与患者完全相同。结论应用该方法可以对HD进行准确的基因诊断,为临床HD高风险者的检出及随后的产前诊断提供了一种简便、易行的检测方法,同时也证明IT15基因的动态突变是导致该家系中亨廷顿病发生的遗传基础。
Objective To investigate the pathogenesis of Huntington’s disease (HD) at the molecular level and clarify the gene mutation in Huntington’s disease pedigrees to provide a scientific basis for gene diagnosis and genetic counseling of this family. Methods The length of amplified fragment of IT15 gene (CAG) n was detected at the molecular level by nested PCR and agarose gel electrophoresis. In a familial HD family of patients, the high risk pre-HD and normal Family members for genetic diagnosis. Results One normal amplification band showed about 100 bp in normal controls. In addition to one normal amplified fragment (about 100 bp) in HD patients, there was an abnormally amplified fragment of about 200 bp in length. In HD high-risk members Out of two HD gene carriers, the amplified fragment exactly the same with the patient. Conclusions This method can be used to accurately diagnose HD, provide a simple and easy method for the detection of HD in high risk and subsequent prenatal diagnosis, and also prove that the dynamic mutation of IT15 gene results in The genetic basis for the occurrence of Huntington’s disease in this pedigree.