安徽省铜陵市脆性 X 综合征的分子生物学调查和遗传学分析  

Screening and genetic analysis of fragile X syndrome in Tongling Anhui province of China

作　　者：沈岩[1,2] 朱宁宁 范钰[1,2] 黄端 秦学斌[1,2] 江世琴 吴冠芸 

机构地区：[1]中国医学科学院基础医学研究所中国协和医科大学基础医学院 [2]安徽省铜陵市第四人民医院

出　　处：《中华医学杂志》1997年第4期260-262,共3页National Medical Journal of China

基　　金：国家自然科学基金;美国中华医学基金

摘　　要：目的抽样调查铜陵市儿童中脆性Ｘ综合征的发病率，以此推算我国该病的发病率。方法应用聚合酶链反应（ＰＣＲ）及ＤＮＡ印迹杂交技术，对从安徽省铜陵市１７．２６万人口中，筛查出的８８名智力低下儿童中无明显产时及产后因素所致的智力低下者进行ＦＭＲ１基因分析。结果共检出脆性Ｘ综合征患者７例，其中女３例，男４例，分属６个家庭。从这７个先证者的亲属中又查出携带者５人，正常传递者３人，患者６例，共检出患者１３例。结论根据这一结果推算我国Ｆｒａ（Ｘ）的发病率与国外文献报道一致。Objective\ To investigate the preval of fragile Xsyndrome in the Chinese. Methods Fragile Xsyndrome was screened from172,600people living in Tongling city,Anhui province.Suspected patients were tested by PCR and Southern Blotting. Results Seven of88mental handicap children were found with fra(X),including3female and4 male patients.Six patients,3 normal transmitting males and 5 carriers were found in detailed search in these 6 fra(X)families.Genetic linkage analyses of 2 of the families were reported here. Conclusion The prevalence of fragile Xsyndrome in the Chinese is not apparently different from the previous reports on the Caucasian population.

关 键 词：脆性X综合征 聚合酶链反应 医学遗传学 

分 类 号：R596.103[医药卫生—内科学] R394[医药卫生—临床医学]