【摘要】 目的对一良队家族性婴儿癫痫家系进行基因定位研究。方法按文献报道，选取10对微卫量标记进行连锁分析，包括D165401，D16S420，D16S3060，D1653062，D1653068，D195226，D195249，D195875，D19S915及D195930。共采集到3家系32例成员的血样，包括全部15例患者。PCR总反应体积为10μl，γ－32PATP标记引物，6％聚丙稀眺按凝胶但功率100W电泳3～5h，上样体积2μl。－80℃冰箱放射自显影6～8h。LINKAG5．1软件包，计算两点间的连锁关系。结果最大LOD值在D195249为0．71，D195875为0．26，D1653068为0．27，D16S420为0．15。按LOD3．0为标准判断，未发现紧密连锁关系。结论中国BFIC家系与文献报道的意大利及法国BF－IC家系可能有不同的基因位点。更多还原

【Abstract】 Mapping the gene of benign familial infantile convul-sions in a Chinese epileptic family.Methods Microsatellite makers were selected according to Guipponi and Szepetowski reported. Including D16S401, D16S420,D16S3060, D16S3062, D16S3068, D19S226, D19S249, D19S875,D19S915, D19S930. Total 32blood samples were collected including 15 patients from the family. PCR reactions were performed in volume of 10μl and using radioactive γ-32PATP to label the primers.Loading 2μlPCR product on 6% sequence gel and running corstant power 100W for 3 to 5 hours. Radioautograph in -80degrees for 6 to 8 hours. Two-point linkage analysis was performed using LINKAG 5. 1 software package.Results The maxim LOD score in D19S249 is 0. 71, d 19S875 is 0. 26, D16S3O68 is 0. 27, D16S420 is 0. 15respectively. Closed linkage result was not achieved yet among the 10 imcrosatellite markers.Conclusion The BFIC gene in Chinese epileptic family might be different from the gene of Uuropean eplieptic families.更多还原