Genetic heterogeneity in families with hereditary multiple exostoses.
Genetic heterogeneity in families with hereditary multiple exostoses.
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发表时间：
1993-07
影响因子：
9.8
通讯作者：
A. Cook;W. Raskind;S. Blanton;R. Pauli;Ronald G. Gregg;C. Francomano;E. Puffenberger;E. Conrad;G. Schmale;G. Schellenberg;E. Wijsman;J. Hecht;D. Wells;M. Wagner
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作者：
A. Cook;W. Raskind;S. Blanton;R. Pauli;Ronald G. Gregg;C. Francomano;E. Puffenberger;E. Conrad;G. Schmale;G. Schellenberg;E. Wijsman;J. Hecht;D. Wells;M. Wagner
对11个遗传性多发性外生骨疣（EXT）家系的分离基因进行了连锁分析。四个高度信息化，短串联重复序列（STR）标记，已被物理映射到周围的Langer-Giedion染色体区域（8q24.11-q24.13）的间隔中使用的多点连锁分析。在70%的家系中（95%可信区间为26%-96%），EXT与STR标记连锁的异质性模型的LOD值最高为8.11，EXT最可能的位点在D8 S85和D8 S199之间。因此，至少有两个基因能够引起遗传性多发性外生骨疣，一个在Langer-Giedion区域，另一个在另一个非连锁位置。
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.