目的：探讨亨廷顿舞蹈病（ HD）家系的基因诊断并进行文献复习。方法收集亨廷顿舞蹈病一家系成员外周静脉血，提取DNA，采用PCR技术进行基因检测，并复习最新文献资料。结果基因分析确诊先证者（Ⅱ2） IT－15基因序列上CAG重复次数为55次，为HD患者；该家系成员中Ⅲ2出现共济失调，基因序列CAG重复次数为58次，属于全突变范围。结论基因诊断是亨廷顿舞蹈病最主要的诊断方法，目前此病仍无有效治疗手段，但基因治疗为该病提供了新的方向。%Objective To explore the genetic diagnosis of three cases of Huntington disease in one family and litera -ture review .Methods The peripheral venous blood samples were collected from several members of a family who were assumed to suffering from Huntington disease .Then, DNA was extracted to perform genetic testing using PCR .Mean-while, recent literature was reviewed .Results According to genetic analysis , three basic pairs "CAG"within IT-15 gene were repeated for 55 times in Patient Ⅱ2 who was the initially diagnosed with Huntington disease .TheⅢ2 member of this family presented ataxia , with the basic pairs "CAG"repeated for 58 times within the scope of full mutation .Con-clusion Genetic diagnosis is the main method for diagnosis of Huntington disease , which offers a new direction for treat-ment .
展开▼
