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  • Title: Intergeneration CAG expansion in a Wuhan juvenile-onset Huntington disease family.
    Author: Liu Y, Shen Y, Li H, Wang H, Yang ZR, Chen Y, Tang YP.
    Journal: Neurosci Bull; 2007 Jul; 23(4):198-202. PubMed ID: 17687393.
    Abstract:
    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: III(10), III(12), III(14), IV(3), and V(2) carried (CAG) (48), IV(11) and IV(12) carried (CAG) (67), and IV(14) carried (CAG) (63), in contrast with the 8-25 CAG trinucleotides in the members of control group. IV(14) carried 15 more CAG trinucleotides than her father III(10). 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 patient IV(12). 目的: 对青少年发病的亨廷顿舞蹈病(Huntington disease)家系进行致病 IT15 基因早期诊断分析, 为家系成员提供遗传咨询, 并为后续的HD发病机制及实验治疗研究提供依据。 方法: 按照知情同意原则抽取家系成员外周血, 提取基因组DNA, 采用改良的降落 PCR 方法扩增 IT15 基因致病区域, DNA 测序检测异常等位基因 (CAG)n 三核苷酸重复次数。 结果: 在该家系三代 25 名成员中, 共发现 8 名致病 IT15 基因携带者, 其中, III10、 III12、 III14、 IV3 和 V2 CAG 三核苷酸的拷贝数均为 48, IV11 和 IV12 均为 (CAG)67, IV14 为 (CAG)63, 而对照组 35 名正常人的CAG三核苷酸的拷贝数为 8–25, 两者之间没有重叠。 结论: 家系中第四代致病基因携带者 IV14 与第三代患者 III10 比较, CAG 三核苷酸重复次数增加 15 次, 即本家系 IT15 基因在传递过程中发生了扩增突变。同时扩增突变导致该家系出现青少年发病及遗传早现现象。
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