[关键词]
[摘要]
目的：对中国一个常染色体显性遗传先天性白内障家系(ADCC)的已知候选基因进行筛查以寻找致病位点。
方法：收集一个ADCC家系的临床资料并采集静脉血。在24个已知与ADCC相关基因附近选择微卫星标记，利用Linkage软件Mlink软件包进行连锁分析计算Lod值。
结果：此家系白内障类型为核性白内障，24个候选基因附近50个微卫星Lod值均小于0，微卫星所在区域与此家系致病基因无连锁关系。
结论：此ADCC家系致病基因不是已知的与ADCC相关基因，可能是一个新的致病基因突变导致此家系疾病发生。
[Key word]
[Abstract]
AIM: To investigate a Chinese autosomal dominant congenital cataract(ADCC)family and to find the relationship between the candidate gene and this pedigree.
METHODS: The clinical data and blood samples of the ADCC family were collected.Microsatellite markers were chosen according to 24 known candidate genes of ADCC. Lod scores of microsatellite markers were calculated with Mlink package of linkage software.
RESULTS: The phenotype of this family was nuclear cataract. After linkage analyzing,Lod scores of 50 microsatellite markers were less than zero. There was no linkage between the microsatellite markers and this pedigree.
CONCLUSION: The related gene of this family is not among the known genes of ADCC maybe there is a new pathogenic gene in this pedigree.
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