首页 | 本学科首页   官方微博 | 高级检索  
     


Genetic heterogeneity in families with hereditary multiple exostoses
Authors:April Cook   Wendy Raskind   Susan Halloran Blanton   Richard M. Pauli   Ronald G. Gregg   Claire A. Francomano   Eric Puffenberger   Ernest U. Conrad   Gregory Schmale   Gerard Schellenberg   Ellen Wijsman   Jacqueline T. Hecht   Dan Wells     Michael J. Wagner
Abstract:We have carried out a linkage analysis on 11 families segregating gene(s) for hereditary multiple exostoses (EXT). Four highly informative, short tandem-repeat (STR) markers that have been physically mapped to an interval surrounding the Langer-Giedion chromosomal region (8q24.11-q24.13) were used in a multipoint linkage analysis. Significant evidence for linkage of EXT with genetic heterogeneity was found. A model of heterogeneity with linkage of the disease gene to the STR markers in 70% of the families (with a 95% confidence interval of 26%–96%) produced a maximum LOD score of 8.11, with the most likely position of EXT between D8S85 and D8S199. Thus there are at least two genes that are capable of causing hereditary multiple exostoses, one in the Langer-Giedion region and one at another, unlinked location.
Keywords:
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号