【摘要】 目的定位一个先天性白内障家系的致病基因。方法根据以往研究得到证实的与先天性白内障有关的三类晶状体蛋白基因在染色体上的位置,分别选取3～4个用Fam或Hex荧光标记的微卫星标记物,多重PCR产物经美国ABI公司3700测序仪毛细管电泳,由GeneMapperV3.0软件处理,结合外显率和发病率对该家系进行连锁分析。结果三类晶状体蛋白5个侯选突变基因周围的18对微卫星标记位点的LOD值均<0.50,致病基因同已知基因之间不存在连锁关系。结论该家系致病基因不是三类已知晶状体蛋白基因,其致病基因的定位有待进一步研究。更多还原

【Abstract】 ObjectiveTo map the mutation gene of congenital cataract in a four generation pedigree in north of china.MethodsEight normal persons and eight patients in this family were recruited.Genome scan method based on two different fluorescence labels microsatellite markers with multiplex PCR system was used to identify loci influencing susceptibility to congenital cataract.Eighteen microsatellite markers on three categories crystallins five candidate loci were used as genetic markers.Linkage analysis with GeneMapper V3.0 and Designer soft system was performed.ResultsThe LOD score was<0.50 in all microsatellite markers around the three kinds of crystalline gene in five candidate loci.It is indicated that there was no linkage between these markers and congenital cataract related gene in this pedigree.ConclusionCongenital cataract mutation gene in this pedigree is not located on the five candidate loci.The disease gene should be gained through the whole Genescan.更多还原