文献类型：期刊文章

作　　者：刘媛[1] 沈滟[2] 李和[3] 王慧[1] 杨真荣[1] 陈燕[1] 唐艳平[1]

机构地区：[1]华中科技大学同济医学院医学生物学系,武汉430030 [2]河南科技大学医学院医学遗传学教研室,武汉471003 [3]华中科技大学同济医学院解剖学系组织学与胚胎学教研室,武汉430030

出　　处：《Neuroscience Bulletin》

年　　份：2007

卷　　号：23

期　　号：4

起止页码：198-202

语　　种：中文

收录情况：CAS、CSCD、CSCD2011_2012、EBSCO、EMBASE、IC、JST、PUBMED、SCI、SCIE、SCOPUS、WOS、ZGKJHX、普通刊

摘　　要：Objective To make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington disease （HD） family, for providing them with genetic counseling, and making preparation for the further research on pathogenesis and experimental therapy of HD. Methods According to the principle of informed consent, we extracted genomic DNA from peripheral blood samples and carried genetic diagnosis of pathogenic exon 1 of IT15 gene by modified touchdown PCR and DNA sequencing methods. Results Eight of twenty-five family members carried abnormal allele： Ⅲ10 Ⅲ12, IIIt4, Ⅳ3, and Ⅴ2 carded （CAG） 48, Ⅳ11 and Ⅳ12 carried （CAG） 67, and Ⅳ14 carried （CAG） 63, in contrast with the 8-25 CAG trinucleotides in the members of control group. Ⅳ14 carried 15 more CAG trinucleotides than her father Ⅲ10. Conclusion The results definitely confirm the diagnosis of HD and indicate the CAG trinucleotide repeat expansion of IT15 gene in this HD family. In addition, CAG expansion results in juvenile-onset and anticipation （characterized by earlier age of onset and increasing severity） of the patientⅣ12.

关 键 词：Huntington disease  early diagnosis  trinucleotide repeat expansion  genetic anticipation  

分 类 号：R742.2]