摘要
运用位置克隆与同源筛选相结合的方法克隆了位于１１ｐ１１的ＥＸＴ２基因，并对２０个ＥＸＴ家系的３７个病人进行了ＳＳＣＰ和测序分析。结果发现２个病人含有ＧＧ插入突变，证实了所克隆基因为ＥＸＴ２基因。同时，运用同源筛选法克隆了ＥＸＴ４基因，并将其定位于１ｐ３６．
Hereditary multiple exostose(EXT) is an autosomal dominant disorder of skeletal system. Three genetic loci have been identified at 8q24.1(EXT 1), 11p11(EXT 2) and 19p(EXT 3) respectively. In this paper, EXT 2 gene was cloned with positional cloning and homologous screening. SSCP and sequencing analysis have been done in 37 EXT patients who came from 20 EXT families, 2 mutations of insertion were tested in 2 patients. This confirmed that the gene cloned in this paper was EXT 2 gene which locus at 11p11. Additionally EXT 4 gene was cloned with homologous screening and located at 1p36.1 with FISH in this paper.
出处
《湖南医科大学学报》
CSCD
1998年第6期519-523,共5页
Bulletin of Hunan Medical University
基金
国家自然科学基金
杰出青年科学基金
国家教委"跨世纪优秀人才计划"基金
卫生部科研基金
史克必成药厂资助
关键词
遗传性
多发性
骨疣
基因克隆
EXT2基因
EXT 2
multiple exostoses
positional cloning
gene homologe screening
mutation analysis
EXT 4
