遗传性白内障家系收集及其遗传资源库的初步建立

目的：抢救性收集遗传性白内障家系资源，初步建立白内障遗传资源库。方法：利用本市出生缺陷监测网络系统，开展遗传性白内障调查以及家系成员患病状况调查，并经过专科检查、遗传学表型和系谱分析确认遗传性白内障家系。抽取患者和正常家庭成员外周血，提取DNA。结果：鉴定检查2个家系，共25人，其中遗传性白内障患者7人，系谱分析确认该病在这两个家系中的遗传方式均为常染色体显性遗传；收集到散发病例25个。外周血提取基因组DNA，质量经琼脂糖凝胶电泳确认带纹明显、清晰，效果佳。提取DNA样本储存-80℃冰箱。结论：成功地获得到2个遗传性白内障家系的详细背景资料、血样及基因组DNA，初步建立遗传性白内障遗传资源库。为全基因组扫描，寻找该病的易感基因及其初步定位奠定基础。

Collection of Hereditary Cataract Pedigrees and Primary Establishment of its Genetic Re-source

Objective:To conserve the resources of hereditary cataract pedigrees and initially establish its ge-netic resource. Methods:Hereditary catarct and sickness status of family member were investigated using the monitoring network system for birth defects in our city. And hereditary cataract pedigrees were confirmed through special examination, genetic phenotype and pedigree analysis. Peripheral blood samples were col-lected from patients and normal family members, and then DNA samples were extracted. Results:2 parenta-ges (25 cases) were identified and 7 cases were confirmed as hereditary cataract. Pedigree analysis showed that autosomal dominant inheritance was the mode of inheritance in these 2 parentages. 25 sporadic cases were collected in this study. Genomic DNA was extracted from peripheral blood, and the qualities of DNA were detected using agarose gel electrophoresis (AGE). DNA samples were then conserved at -80℃. Con-clusion:Detailed background information, blood samples and genomic DNA of 2 hereditary cataract pedi-grees are obtained successfully, and hereditary cataract genetic resource is established initially. The progress of this study may lay foundation for genome- wide scanning, searching for predisposing genes and its initial localization.