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目的探讨一个遗传性脊髓小脑型共济失调(SCA)大家系的遗传特点和基因突变分析。方法对一个遗传性脊髓小脑型共济失调(SCA)大家系进行家系调查,绘制系谱图,抽取家系成员外周血,采用聚合酶链反应和毛细管电泳对致病基因进行分析检测。结果该家系的遗传性脊髓小脑型共济失调(SCA)为常染色体显性遗传,6代45人中有15人为SCA患者,4人为携带致病基因的无症状患者。患者ATX3基因的CAG三核苷酸重复65-73次。结论该家系为常染色体显性遗传的SCA3型(SCA/MJD),患者基因突变检测分析显示异常扩增的CAG突变数与发病年龄呈明显的负相关。基因突变检测在疾病诊断和早期发现无症状患者方面有重要作用,从遗传生殖角度阻断该病的遗传有重要意义。
Objective To investigate the genetic characteristics and gene mutation of a pedigree of hereditary Spinocerebellar Ataxia (SCA). Methods A pedigree of hereditary spinocerebellar ataxia (SCA) pedigree was investigated. Pedigree was drawn and peripheral blood of family members was drawn. The pathogenic genes were analyzed by polymerase chain reaction and capillary electrophoresis. Results The pedigree SCT was autosomal dominant, 15 of 6 generations were SCA patients and 4 were asymptomatic patients with pathogenic genes. Patients with ATX3 gene CAG trinucleotide repeat 65-73 times. Conclusion The pedigree is autosomal dominant type SCA3 (SCA / MJD). The analysis of gene mutation in this pedigree shows that there is a significant negative correlation between the number of abnormally amplified CAG mutations and the age of onset. Detection of gene mutations in the diagnosis of disease and early detection of asymptomatic patients has an important role, from the perspective of genetic reproduction to block the genetic genetic disease of great significance.