常染色体显性先天性白内障大家系致病基因定位的初步研究  

Gene mapping of a large Chinese family with autosomal dominant congenital cataract

作　　者：夏欣一[1] 崔英霞[1] 金力[2] 谢萍星[2] 张锋[2] 杨滨[1] 张丽京[3] 王理理[3] 薛春燕[3] 李晓军[1] 黄宇烽[1] 

机构地区：[1]南京大学医学院临床学院(南京军区南京总医院)解放军临床检验医学研究所,江苏南京210002 [2]复旦大学遗传学研究所,上海200433 [3]南京军区南京总医院眼科,江苏南京210002

出　　处：《医学研究生学报》2008年第10期1021-1025,共5页Journal of Medical Postgraduates

基　　金：江苏省135工程重点学科基金资助项目(批准号:[2001]34)

摘　　要：目的:报道1个涉及5代17例患者的常染色体显性先天性白内障(ADCC)大家系,并进行致病基因的定位。方法:对家系中8例患者进行眼科检查后明确临床表型,并提取所有血样的基因组DNA。首先对已报道的中国ADCC家系致病位点(9个基因的16个突变位点)进行DNA测序,然后根据已报道的17个ADCC候选基因和13个染色体区域,选取27个微卫星分子标记,应用LINKAGE软件进行连锁分析。结果:8例患者均为先天性核性白内障。直接DNA测序未发现有已报道的中国家系基因突变。所选取的27个微卫星分子标记与该家系致病基因均不连锁。结论:该ADCC家系致病基因不在已报道的17个ADCC候选基因和13个染色体区域,该家系中可能存在一个新的ADCC致病基因。Objective： To report a large Chinese family in which 17 patients over 5 generations were diagnosed as autosomal dominant congenital cataract（ADCC） and map the related genes.Methods： Ophthalmic examinations were performed to verify the clinical phenotype in 8 patients of the ADCC family and genomic DNA of all blood samples was extracted.Firstly,direct DNA sequencing was carried out on all reported mutation points（16 points of 9 genes） in Chinese ADCC families.Then,27 microsatellite polymorphic markers,near 17 candidate genes and 13 chromosomal loci,were selected and linkage analysis were performed with LINKAGE software package.Results： Eight patients involved in the study were diagnosed as congenital nuclear cataract.No mutations were found in 16 points of 9 genes by DNA sequencing.There was no linkage between the selected 27 markers and the genes causing ADCC in the family.Conclusion： The causative mutation is not located on the 17 candidate genes and 13 chromosomal loci,which might suggest that a novel ADCC-related gene be responsible for the phenotype of this family.

关 键 词：先天性白内障 常染色体显性遗传 连锁分析 

分 类 号：R776.1[医药卫生—眼科]