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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。
Objective To investigate the gene localization of a familial pedigree infantile epilepsy pedigree. Methods According to the literature, 10 pairs of microsatellite markers were selected for linkage analysis including D165401, D16S420, D16S3060, D1653062, D1653068, D195226, D195249, D195875, D19S915 and D195930. A total of 32 blood samples were collected from 32 members of 3 families, including all 15 patients. PCR total reaction volume of 10μl, γ-32PATP labeled primer, 6% polypropylene overlooking the gel but the power of 100W electrophoresis 3 ~ 5h, the sample volume 2μl. -80 ℃ freezer autoradiography 6 ~ 8h. LINKAG5.1 software package, calculate the linkage between two points. Results The maximum LOD values were 0.71 for D195249, 0.26 for D195875, 0.27 for D1653068, and 0.15 for D16S420. By LOD3.0 as the standard judge, did not find a close chain relationship. Conclusion The BFIC pedigrees in China may have different gene loci with the BF-IC families in Italy and France reported in the literature.