一个患有亨廷顿病的回族家庭的临床特征及基因突变分析
[Clinical characteristics and genetic mutation analysis in a Hui family with Huntington disease].
作者信息
Chen Jing, Lei Jing, Zhang Xiao-ning
机构信息
Physical Examination and Health Management Center, the First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, People's Republic of China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):493-5. doi: 10.3760/cma.j.issn.1003-9406.2011.05.004.
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.
目的
对来自新疆的一个回族家系进行亨廷顿病（HD）的临床分析及基因诊断。
方法
采用降落PCR、分子克隆及基因测序技术分析该回族家系的IT15基因突变情况。
结果
先证者携带46个CAG重复序列。首发症状为双侧下肢疼痛，随后出现舞蹈样不自主运动、情绪障碍、记忆力及智力减退等症状。先证者无症状的儿子携带44个CAG重复序列。
结论
该家系IT15基因的CAG三核苷酸重复序列在母系传递过程中减少。在CAG重复区域内还检测到一个CAA变异。
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