Intergeneration CAG expansion in a Wuhan juvenile-onset Huntington disease family

作     者：刘媛 沈滟 李和 王慧 杨真荣 陈燕 唐艳平 Yuan LIU;Yan SHEN;He LI;Hui WANG;Zhen-Rong YANG;Yan CHEN;Yan-Ping TANG

作者机构：华中科技大学同济医学院医学生物学系武汉430030 河南科技大学医学院医学遗传学教研室武汉471003 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 版 物：《Neuroscience Bulletin》 (神经科学通报（英文版）)

年 卷 期：2007年第23卷第4期

页      面：198-202页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

基　　金：National Natural Science Foundation of China, NSFC, (30430260) National Natural Science Foundation of China, NSFC 

主　　题：Huntington disease early diagnosis trinucleotide repeat expansion genetic anticipation 

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.