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目的分析中国汉族人群ATXN7基因突变,探讨遗传性脊髓小脑型共济失调7型(SCA7)患者临床特征。方法运用聚合酶链反应、变性聚丙烯酰胺凝胶电泳和毛细管电泳方法对521例临床诊断为SCA的患者(337例常染色体显性遗传先证者,184例散发患者)及258名健康对照人群进行ATXN7基因CAG三核苷酸重复突变分析,并对有ATXN7基因异常的7个家系进行临床总结。结果337例常染色体显性遗传先证者中发现7个ATXN7基因CAG三核苷酸异常重复扩增突变(2.08%),其异常重复次数范围为38～71次;184例散发患者未发现CAG三核苷酸异常重复扩增突变。258名健康对照者中共发现13种等位基因,CAG重复次数范围为5～17次,平均10.23次,以10次CAG三核苷酸重复最常见。7个SCA7家系临床主要表现为共济失调、视力下降、眼底病变,同时可合并其他多种少见临床症状,在父系遗传时存在明显的遗传早现现象。结论SCA7多呈常染色体显性遗传,散发病例罕见,临床表现复杂,进行ATXN7基因突变分析有助于临床诊断。
Objective To analyze the ATXN7 gene mutation in Chinese Han population and to explore the clinical features of inherited Spinocerebellar ataxia 7 (SCA7). Methods A total of 521 SCA-diagnosed patients (337 autosomal dominant individuals and 184 sporadic patients) and 258 healthy controls were analyzed by polymerase chain reaction, denaturing polyacrylamide gel electrophoresis and capillary electrophoresis. ATXN7 gene CAG trinucleotide repeat mutation analysis, and ATXN7 gene abnormalities in seven families for clinical summary. Results A total of 337 ATXN7 CAG trinucleotide repeat amplification mutations (2.08%) were found in 337 cases of autosomal dominant probands, ranging from 38 to 71 times. A total of 184 cases were found to have no CAG Trinucleotide abnormalities repeat amplification mutation. Thirteen alleles were found in 258 healthy controls. The number of CAG repeats ranged from 5 to 17, with an average of 10.23, with 10 CAG trinucleotide repeats being the most common. Seven SCA7 pediatric clinical manifestations mainly ataxia, vision loss, retinopathy, combined with many other rare clinical symptoms, there is a clear genetic premature phenomenon in the paternal inheritance. Conclusion SCA7 mostly autosomal dominant inheritance, sporadic rare cases, clinical manifestations of complex, ATXN7 gene mutation analysis is helpful for clinical diagnosis.