|
KMID : 0613319990050020105
|
|
Journal of the Korean Bone and Joint Tumor Soceity
1999 Volume.5 No. 2 p.105 ~ p.111
|
|
|
Linkage Study of EXT2-linked Markers in a Hereditary Multiple Exostosis Family
|
|
Kim Byung-Suck
Park Sang-Jin
Kim Woo-Sik
Ahn Jae-In
Kim Hyon-Ju
|
|
|
Abstract
|
|
|
|
Hereditary multiple exostosis(HME) is an autosomal dominant disorder with altered enchondral bone developement. Its clinical characteristics include multiple exostoses, which originate in the juxta-epiphyseal region of the long bones, covered by the subperiosteal cartilage cap and progressively changed to bony mass until skeletally mature. Recently, three different EXT loci [chromosomes 8q24.1(EXT1), 11pl1-12(EXT2), 19p11-14(EXT3)] have been reported by linkage analysis in informative families. In this study, we performed a linkage analysis on a family segregating gene for HME. Four highly informative microsatellite markers, Dl1S1319, Dl1S1355, Dl1S905, and Dl1S903 that have been physically mapped on 11p11-12were used for polymerase chain reaction. The fact that linkage analysis revealed the phenotype coincides with the genotype suggesting that EXT2 may cause HME in this family.
|
|
|
KEYWORD
|
|
|
Hereditary multiple exostosis(HME), Linkage analysis, EXT2 gene
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|