摘要
运用分别定位于人８号、１１号和１９号染色体上的８个二核苷酸（ＣＡ）ｎ重复多态位点，用连锁分析的方法对１１个遗传性多发性外生性骨疣病（ＥＸＴ）家系进行了基因定位分析。结果提示，其中４个家系致病基因位于１１号染色体近着丝粒区域。
We investigated 11 families with hereditary multiple exostoses ( EXT ) by linkage analysis using 8 short-tandem-repeat (CA)n polymorphic markers on chromosomes 8, 11 and 19. The Lod score in four families indicated that the gene responsible for EXT is located in the pericentromeric region of chromosome 11.
关键词
遗传性
多发性
外生性
骨疣病
EXT基因
基因定位
Hereditary multiple exostoses, EXT gene, Short-tandem-repeat, Linkage analysis
