遗传性多发性骨软骨瘤家族中的遗传异质性。
Genetic heterogeneity in families with hereditary multiple exostoses.
作者信息
Cook A, Raskind W, Blanton S H, Pauli R M, Gregg R G, Francomano C A, Puffenberger E, Conrad E U, Schmale G, Schellenberg G
机构信息
Department of Biology, University of Houston, TX 77204-5513.
出版信息
Am J Hum Genet. 1993 Jul;53(1):71-9.
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.
我们对11个分离遗传性多发性骨软骨瘤（EXT）基因的家族进行了连锁分析。使用了四个高度信息丰富的短串联重复序列（STR）标记，这些标记已通过物理定位到围绕朗格-吉迪恩染色体区域（8q24.11-q24.13）的一个区间，进行多点连锁分析。发现了EXT与遗传异质性连锁的显著证据。在70%的家族中（95%置信区间为26%-96%），疾病基因与STR标记连锁的异质性模型产生了最大LOD分数8.11，EXT最可能的位置在D8S85和D8S199之间。因此，至少有两个基因能够导致遗传性多发性骨软骨瘤，一个在朗格-吉迪恩区域，另一个在另一个未连锁的位置。
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