应用基因内探针及微小卫星DNA多态性分析脆性X综合征家系  

GENE ANALYSIS OF A FRAGILE X FAMILY USING INTRAGENIC PROBES AND MICROSATELLITES REPEATS

作　　者：李牧尧[1] 赵荣枝[1] 光炜[1] 庄怡[1] 马梅荪[1] 

机构地区：[1]新疆医学院生物学教研室,乌鲁木齐市830054

出　　处：《中华医学遗传学杂志》1993年第4期198-201,共4页Chinese Journal of Medical Genetics

基　　金：新疆维吾尔自治区科委八五攻关基金

摘　　要：用位于脆性X综合征基因(FMR-1)内的探针StB12.3和StB12XX对一脆性X家系分支进行了DNA分析。结果表明,探针StB12.3与EcoRI+Eag I酶消化结合可以鉴别出该家系中具有完全突变的患者。而探针StB12XX与Bcl I消化结合则更易于判断前突变的长度变化,区分携带者。进一步应用PCR方法扩增距脆性X位点150kb的双核苷酸重复顺序,DNA多态性分析表明,在该家系中脆性X突变与f型定位基因紧密连锁。The intragenic (FMR-1)probes were used for DNA analysis in a sub fragih X family. With probe StB12. 3 to EcoRI+Eag I digests, the full mutation of affected individuals was detectable, but for some carriers with smaller premutation, the combination of probe StB12XX and Bel I digest was probably more efficient. The polymorphism of dinucleotide repeat, DXS548, which is approximately 150kb to the fra (X) site was further studied. It was revealed that the fragile X mutation was linked to f allele (204bp) in this family. This made the screening of the big family easier.

关 键 词：脆性X综合征 核酸杂交 重复顺序 

分 类 号：R596[医药卫生—内科学]