论文摘要
【目的】1. 总结强直性肌营养不良的临床和病理特点,加深对本病的认识,提高诊断水 平。2. 研究我国正常汉族群体DMPK基因CTG重复序列和ZNF9基因CCTG重复序列 的分布特征。3. 初步探讨强直性肌营养不良的基因诊断。【方法】1. 回顾性分析24 例强直性肌营养不良患者的临床和病理资料。2. 采用常规PCR、变性聚丙烯酰胺凝胶电泳、银染和测序技术研究145 名正常 汉族人DMPK基因CTG重复序列和ZNF9 基因CCTG重复序列的分布特征。3. 采用常规PCR 和测序技术对临床上诊断为强直性肌营养不良的24 例患者及 其亲属进行基因诊断。【结果】1. 成年型DM1 的临床和病理特征是:①青中年起病,进展缓慢;②常有明显的 家族史;③多组肌群的萎缩、无力及强直,以面部、颈部及肢体远端肌肉为 主,伸肌重于屈肌;④全身多系统受累,其中男性早秃是本病的突出体征之 一;⑤肌电图具有特征性的肌强直放电和肌原性损害表现;⑥核内移、核链 形成、以Ⅰ型肌纤维萎缩为主是其肌肉病理特征。2. 正常汉族群体DMPK 基因CTG 重复序列分布特征:290 条染色体中共发现 19 种不同的等位片段,CTG 拷贝数为5 的等位片段最为常见(37.9%),其它频 率较高等位片段的CTG 拷贝数依次是11(19.0%)、13(13.1%)、12(7.6%)、
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标签：强直性肌营养不良论文; 临床分析论文; 肌肉病理论文; 三核苷酸重复序列论文; 串联重复序列论文; 多态性论文; 基因诊断论文;