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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。
OBJECTIVE: To rescue the family resources of hereditary cataract and to establish the database of cataract genetic resources. Methods: Using the birth defects monitoring network system in our city, we conducted a survey of hereditary cataract and the prevalence of family members. The family history of inherited cataract was identified through specialist examination, genetic phenotype and pedigree analysis. Extract peripheral blood from patients and normal family members and extract DNA. Results: Two families were identified and examined, of which 25 were confirmed. Among them, 7 were inherited cataract patients. Pedigree analysis confirmed that the genetic pattern of the two families was autosomal dominant; 25 sporadic cases were collected. Genomic DNA was extracted from peripheral blood, and the quality was confirmed by agarose gel electrophoresis. Extract DNA samples -80 ℃ refrigerator. Conclusion: The detailed background data, blood samples and genomic DNA of two hereditary cataract families were successfully obtained, and a genetic library of genetic cataract was initially established. It lays the foundation for genome-wide scanning and finding the susceptible genes of the disease and their preliminary localization.