家族性淀粉样多发性神经病一家系病理及基因点突变
A study on a family with familial amyloid polyneuropathy in China
李延峰 1郭玉璞 1池田修一 1方定华1
作者信息
- 1. 100730 中国医学科学院中国协和医科大学北京协和医院神经科
- 折叠
摘要
目的 对我国首次报道的家族性淀粉样多发性神经病（FAP）家系进行各项研究，以期发现其真正类型。方法 对我国东北某地一家系67人共16例多发性周围神经病患者进行详尽的临床检查，对其中2例患者进行腓肠神经病理检查，和转甲蛋白(TTR)基因的聚合酶链反应(PCR)基因扩增及直接法测序分析。结果 临床上该家系所有患者均以植物神经症状，如排尿障碍、胃肠道症状、阳痿为首发症状。体格检查提示为严重的感觉运动神经病、体位性低血压和消瘦。病理学检查发现2例患者均有刚果红染色阳性的大量淀粉样物沉积于神经束间质及神经内膜中。免疫组化证实淀粉样物与TTR有关。PCR扩增产物酶解及直接法测序，确定异常TTR为基因点突变所致，突变位置为日本及葡萄牙型FAP常见的第二个外显子第30个密码子G由A取代。结论 本研究结果证实，该家系为Met30FAP，填补了我国对该疾病研究的空白。
Abstract
Objective To make clear the real type of the first familialamyloid polyneuropathy(FAP) family in China. Methods 16 family members with polyneuropathy were studied through clinical examinations， out of them， 2 were subjected to sural nerve biopsy. Polymerase chain reaction (PCR) and direct sequencing technique were also used to confirm the mutation point of TTR gene. Results Clinically all patients in this FAP family showed the initial symptoms of autonomic failure in most cases. Physical examination showed the patients had polyneuropathy， positive hypotension and emaciation. Sural biopsy showed Cogon red staining material deposited in the interstitial and neurilemma， and the amyloid deposition was strongly reactive to TTR antisera in immunohistological studies. PCR and direct sequencing technique had confirmed that the first base G of the Val 30 codon was substituted by A， indicating a Val 30→Met substitution in TTR protein. Conclusion The clinical features， pathological and genetic studies confirmed that this family was accounted as the first Met30 FAP family in China.
关键词
淀粉样神经病变/腓肠神经/点突变/活组织检查引用本文复制引用
出版年
2001
NETL
NSTL
维普
万方数据