Am J Hum Genet. 1993 Jul;53(1):71-9.

Genetic heterogeneity in families with hereditary multiple exostoses.

Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G, et al.

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Department of Biology, University of Houston, TX 77204-5513.

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.

PMID:: 8317501; [PubMed - indexed for MEDLINE]
PMCID: PMC1682231

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Genetic heterogeneity in families with hereditary multiple exostoses.
Genetic heterogeneity in families with hereditary multiple exostoses.
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Genetic heterogeneity in families with hereditary multiple exostoses.

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