Hereditary multiple exostoses: Confirmation of linkage to chromosomes 8 and 11

作者：Susan Halloran Blanton, Deborah A. Hogue, Michael J. Wagner, Dan E. Wells, Ian D. Young, Jacqueline T. Hecht · 发表于：American Journal of Medical Genetics · 年份：1996 · DOI：10.1002/(sici)1096-8628(19960315)62:2<150::aid-ajmg7>3.0.co;2-# · 被引用次数：26 · 研究领域：Bone Tumor Diagnosis and Treatments、Cancer-related molecular mechanisms research、Oral and Maxillofacial Pathology

Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage capped prominences that develop from the epiphyses of the long bones. EXT is heterogeneous with three different locations currently identified on chromosomes 8, 11, and 19. Recently, we identified and studied 12 large multigenerational EXT families. Linkage analyses demonstrates that 6 of these families map to 8q24 and 6 to 11p. None of the families map to the chromosome 19 locus. The results suggest that there are two major loci, on chromosomes 8 and 11, involved in the cause of EXT. The locus on chromosome 19 remains to be confirmed.