应用cDNA检测RFLPs和核酸杂交剂量诊断DMD／BMD基因携带者的研究  

Diagnosis of carriers for Duchenne and Becker muscular dystrophy: The genetic linkage study and hybridization dosage intensity analysis by using dystrophin cDNA

作　　者：余龙[1] 王柠[1] 邓余[1] 杨玉美[1] 慕容慎行[1] 赵寿元[1] 

机构地区：[1]复旦大学遗传学研究所,福建医学院附属第一医院

出　　处：《复旦学报（自然科学版）》1995年第2期203-213,共11页Journal of Fudan University：Natural Science

基　　金：国家自然科学基金;上海市科学技术发展项目基金;中国博士后基金;复旦大学遗传工程国家重点实验室资助

摘　　要：用ｄｙｓｔｒｏｐｈｉｎｃＤＮＡ检出ＢｇｌⅡ和ＸｂａＩＲＦＬＰｓ，结合ＤＮＡ杂交剂量分析法，检测了申请作ＤＭＤ／ＢＭＤ杂合子鉴定的８个家系６９人的基因型．通过８个ＲＦＬＰｓ的基因内连锁分析和基因剂量分析，１１名女性被诊断为ＤＭＤ基因突变携带者，４名女性为可能携带者，１２名女性被确认为正常个体，３名未到出现ＤＭＤ临床症状年龄的男孩被诊断为正常个体．此外，在４０名子代中发现２名女性有基因内重组，１名女性有一个源于当代突变的ＸｂａＩ多态位点．ystrophin cDNA and restriction enzymes Bgl Ⅱ and Xba Ⅰ were used in this study. The genotypes and or the carrier state of DMD/BMD mutant were investigated in 69 subjects from 1 BMD family and 7 DMD families. of them, 11 females were diagnosed as carriers with DMD gene mutation, 4 females as doubtable carriers, 12 females were defined as normal genotype and 2 females as possible normal. Three boys with DMD risk, less than 3-year old, were dignosed as nounal individuals. Recombination occured within DMD gene were found in 2 of 40 females. A novel Xba I polymorphism locus from the current mutation originating in parental germ cell was found by cDNA I-2a in one female.

关 键 词：遗传病 隐性 DMD 基因突变 RFLPS DNA 杂交剂量 

分 类 号：R596.2[医药卫生—内科学]