Linkage study of hereditary multiple exostosis
- Univ. of Virginia, Charlottesville, VA (United States)
- Univ. of Texas Medical School, Houston, TX (United States); and others
Hereditary multiple exostosis (EXT) is an autosomal dominant disorder characterized by the formation of cartilage capped prominences that develop from the epiphyses of the long bones. Orthopedic complications involve limb length inequalities, bowing, bony synostoses, impaired articular function and short stature. Chondrosarcoma develops in less that 5% of EXT individuals. EXT is genetically heterogeneous with three different chromosomal locations currently identified on chromosome 8, 11 and 19. We have recently identified and studied 10 large multigenerational EXT families, two of which have an affected individual with a chrondrosarcoma. Linkage analysis, using D8S200, D8S85, D8S199 and D8S198, shows that 6 of these families map to 8q24 including the two in which a chondrosarcoma has developed in a member of the family. Loss of heterozygosity studies between the tumor tissue and constitutional DNAs are underway. Two families have recombinations between D8S85 and D8S199 and additional intervening markers are being tested to further narrow this region which is postulated to include the gene locus. The four families excluded from chromosome 8 are being tested for linkage to short tandem repeat markers on chromosomes 11 and 19.
- OSTI ID:
- 133986
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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