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目的探讨中国汉族人群齿状核红核苍白球丘脑底核萎缩(DRPLA)患者的临床表现及基因突变特点。方法收集以共济失调伴不自主动作为主要表现的常染色体显性遗传家族史一家系的临床资料。应用重复引物多聚酶链反应(TP-PCR)和毛细管电泳技术对脊髓小脑性共济失调1、2、3、6、7、12、1 7亚型相关基因、亨廷顿病相关HTT基因和DRPLA相关ATN1基因的动态突变进行检测,发现异常扩增进一步用PCR及Sanger测序法验证。结合文献复习回顾分析中国DRPLA家系的临床和基因特点。结果该家系先证者检出ATN1基因5号外显子上CAG三核苷酸重复序列异常扩增,扩增数为9/59。ATNl CAG三核苷酸重复序列异常扩增数>48次,可确诊为DRPLA。文献报道DRPLA家系16例,患者临床表现均较典型,异常扩增重复数为54~71次,平均(62.3±4.20)次。结论中国DRPLA病例报道较少,临床应对疑似病例进行基因筛查,提高诊断率。
Objective To investigate the clinical manifestations and gene mutation characteristics of thalamic nucleus atrophy (DRPLA) of dentate nucleus in Chinese Han population. Methods The clinical data of a pedigree with autosomal dominant familial history with ataxia and involuntary movements as main manifestations were collected. The polymorphisms of 1,2,3,5,6,7,12,17 isoforms related to Spinocerebellar ataxia, the HTT gene associated with Huntington’s disease and the DRPLA-associated ATN1 were detected by TP-PCR and capillary electrophoresis. The gene mutation was detected and found to be further amplified by PCR and Sanger sequencing. Combined with literature review review of clinical and genetic characteristics of Chinese DRPLA pedigree. Results The probands of this pedigree detected an abnormal amplification of CAG trinucleotide repeat on exon 5 of ATN1 gene with an amplification of 9/59. ATNl CAG trinucleotide repeat abnormal amplification> 48 times, can be diagnosed as DRPLA. Reported in the literature 16 cases of the family of DRPLA, the clinical manifestations of patients were more typical, the number of abnormal amplification repeat was 54 to 71 times, an average of (62.3 ± 4.20) times. Conclusion There are few reports of DRPLA cases in China. Gene screening should be conducted in suspected cases to improve the diagnosis rate.