Huntington病家系分析与临床研究

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摘要亨廷顿病（HD）是一种典型的常染色体显性遗传的神经变性疾病，该病是由单基因HTT突变导致的遗传性疾病，IT15基因中胞嘧啶-腺嘌呤-鸟嘌呤（CAG）n重复拷贝的异常扩展是家系发生HD的发病基础。重复序列＞36次时发病，HD患者出现变异蛋白的累积和神经元死亡病理特征，伴随着行为、认知、精神方面的障碍。本文收集2017～2019年于内蒙古自治区人民医院神经内科就诊HD患者及部分家系成员的详细临床资料，探讨亨廷顿病家系中遗传规律和临床特征，绘制完整的家谱图，并对患者进行IT15基因CAG三核苷酸重复次数的检测，用于该病的基因诊断及症状前诊断。在两家系中确诊3例患者，致病CAG重复拷贝数≥40次。家系分析中发现，父系遗传有遗传早现现象。晚期HD患者存在较典型的临床表现，但早期症状多样且不典型，临床诊断困难，行为学改变，影像学检查有重要的参考价值，基因诊断可确诊该疾病。

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	曾倩1 曹中伟2 孙俊卿3

关键词 ：亨廷顿病, 家系, 临床研究, 基因诊断, 重复序列

Abstract：Huntington′s disease (HD) is a typical autosomal dominant neurodegenerative disease. The disease is a genetic disease caused by a single gene HTT mutation. In the IT15 gene, cytosine-adenine-guanine (CAG) n repeats of the abnormal expansion of copies is the basis of HD in the family. The disease occurs, when the repeat sequence＞36 times. HD patients have accumulated variant protein and neuronal death pathological features, accompanied by behavioral, cognitive, and mental disorders. This article collects detailed clinical data of HD patients and some family members treated in the Department of Neurology of Inner Mongolia People′s Hospital from 2017 to 2019, discusses the genetic rules and clinical characteristics of HD families, draws a complete family tree, and tests the number of CAG trinucleotide repeats of IT15 gene in patients, using for genetic diagnosis and pre-symptomatic diagnosis of the disease. Three patients were diagnosed in both lines, and the causative CAG repeat copy number was≥40 times. In the analysis of the family, it was found that there was a premature phenomenon of paternal inheritance. The patients with advanced HD have more typical clinical manifestations, but the early symptoms are diverse and atypical, the clinical diagnosis is difficult, the behavior changes, and the imaging examination have important reference value. Genetic diagnosis can confirm the disease.

Key words： Huntington′s disease Pedigree Clinical research Genetic diagnosis Repeat sequences

基金资助:内蒙古自治区科技计划项目（201802116）；
内蒙古自治区人民医院院内基金项目（2016066）。

通讯作者: 曹中伟（1970-），男，博士，主任医师；研究方向：神经系统遗传性疾病、乳腺及甲状腺肿瘤。

作者简介: 曾倩（1971-），女，硕士，副主任医师；研究方向：神经系统遗传性疾病。

引用本文:

曾倩1 曹中伟2 孙俊卿3. Huntington病家系分析与临床研究[J]. 中国医药导报, 2020, 17(17): 87-90.
ZENG Qian1 CAO Zhongwei2 SUN Junqing3. Family analysis and clinical research of Huntington disease. 中国医药导报, 2020, 17(17): 87-90.

链接本文:

http://www.yiyaodaobao.com.cn/CN/ 或 http://www.yiyaodaobao.com.cn/CN/Y2020/V17/I17/87

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