一个回族家系亨廷顿舞蹈病的临床特征与基因突变分析  

Clinical characteristics and genetic mutation analysis in a Hui family with Huntington disease

作　　者：陈静[1] 雷晶[2] 张小宁[2] 

机构地区：[1]新疆医科大学第一附属医院体检与健康管理中心,乌鲁木齐830054 [2]新疆医科大学第一附属医院神经内科,乌鲁木齐830054

出　　处：《中华医学遗传学杂志》2011年第5期493-495,共3页Chinese Journal of Medical Genetics

摘　　要：目的分析1个回族家系亨廷顿舞蹈病的临床表现与基因突变特点。方法应用降落聚合酶链反应（touchdownPCR）、分子克隆及基因测序等技术对1个临床诊断为亨廷顿舞蹈病的回族家系成员进行IT15基因检测。结果先证者首发症状为双下肢疼痛，逐渐发展为舞蹈样不自主运动、情绪异常、记忆力、智力减弱等，其染色体4p16．3的IT15基因异常片段cAG重复次数为46次；其子为症状前患者CAG重复次数为44次。结论该家系存在母系传递过程中IT15基因上CAG重复次数减少的现象，并发现1例CAA插入。Objective To perform clinical analysis and gene diagnosis of Huntington disease （HD） in a Hui pedigree from Xinjiang. Methods The IT15 gene mutation of the Hui family was analyzed by touchdown PCR, molecular cloning and gene sequencing. Results The proband carried 46 CAG repeats. Pain in bilateral lower limb was the first symptom, followed by symptoms such as dance-like involuntary movements, mood disorders, impaired memory and intelligence. Asymptomatic son of the proband carried 44 CAG repeats. Conclusion This family showed reduced CAG trinucleotide repeats of IT15 gene during maternal transmission. A CAA variation is also detected within the CAG repeat region.

关 键 词：亨廷顿舞蹈病 三核苷酸重复扩增 IT15基因 

分 类 号：R742.2[医药卫生—神经病学与精神病学]