目的 通过分析COL4A5基因附近的12个微卫星遗传标记形成的单倍体图,排 除性定位一个Alport综合征家系的致病相关基因。方法 应用聚合酶链反应(PCR)扩增 COL4A5基因附近的微卫星遗传标记DXS993、DXS991、DXS986、DXS990、DXS1106、DXS8048、 DXS1220、DXS8055、DXS1001、DXS1047、DXS122、DXS8043,绘制单倍体图分析。结果该家族中 来自不同家庭的患者COL4A5基因的微卫星标记单倍体型不同,并在遗传过程中在不同个体的 COL4A5基因附近发生了交换。结论 排除该Alport综合征家系致病基因是通过X染色体连锁 的方式遗传,而可能是常染色体上基因突变致病。 Objective To analyze the haploid map of 12 microsatellite markers in the vicinity of COL4A5 gene and to exclude the pathogenicity-related genes of a Alport syndrome pedigree. Methods The microsatellite markers DXS993, DXS991, DXS986, DXS990, DXS1106, DXS8048, DXS1220, DXS8055, DXS1001, DXS1047, DXS122 and DXS8043 in the vicinity of COL4A5 gene were amplified by polymerase chain reaction (PCR). Results The microsatellite markers of COL4A5 gene from different families in this family were haplotyped differently and were exchanged in the genetic process near the COL4A5 gene in different individuals. Conclusion It is suggested that the causative genes of the Alport syndrome family may be inherited by means of the X chromosome linkage, which may be caused by mutations in the autosomal gene.