将多发性外生骨疣基因座（EXT2）精确定位于11号染色体上一个3厘摩的区间。
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.
作者信息
Wuyts W, Ramlakhan S, Van Hul W, Hecht J T, van den Ouweland A M, Raskind W H, Hofstede F C, Reyniers E, Wells D E, de Vries B
机构信息
Department of Medical Genetics, University of Antwerp, Belgium.
出版信息
Am J Hum Genet. 1995 Aug;57(2):382-7.
Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least three loci involved: one (EXT1) in the Langer-Giedion region on 8q23-q24, a second (EXT2) in the pericentromeric region of chromosome 11, and a third (EXT3) on chromosome 19p. In this study, linkage analysis in seven extended EXT families, all linked to the EXT2 locus, refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S1361/D11S554. This implies that the EXT2 gene is located at the short arm of chromosome 11, in band 11p11-p12. The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene.
遗传性多发性骨软骨瘤（EXT）是一种常染色体显性遗传性骨骼疾病，其特征是在长骨上形成多个骨软骨瘤。EXT在遗传上具有异质性，至少涉及三个基因座：一个位于8q23 - q24的朗格-吉迪恩区域（EXT1），第二个位于11号染色体着丝粒周围区域（EXT2），第三个位于19p染色体上（EXT3）。在本研究中，对七个均与EXT2基因座连锁的EXT扩展家系进行连锁分析，将EXT2基因的定位精确到了以D11S1355和D11S1361/D11S554为侧翼的3厘摩区域。这意味着EXT2基因位于11号染色体短臂11p11 - p12带。EXT2基因的精确定位排除了位于11号染色体着丝粒周围区域的一些假定候选基因，并促进了EXT2基因的分离过程。
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