Physical mapping of the t(12;14) region in uterine leiomyomata: Identification of a YAC spanning the translocation breakpoint
- Harvard Medical School, Boston, MA (United States)
- Albert Einstein College of Medicine, Bronx, NY (United States); and others
Uterine leiomyomata are the most common pelvic tumors in women and the major coded diagnosis for hysterectomy in the U.S. They are characterized by various chromosome rearrangements and four cytogenetic subgroups have been identified. One of these subgroups includes rearrangements of 12q14-q15, a hotspot for translocations in benign solid tumors including uterine leiomyoma, pleomorphic adenoma of the salivary gland, lipoma, and pulmonary chondroid hamartoma. We have focused on physical mapping of chromosome 12 in the t(12;14)(q14-q15;q24) breakpoint region found in uterine leiomyoma in an effort to clone the rearranged genes and further our understanding of the biology of these tumors. 38 YACs and 7 cosmids spanning 11 cM of 12q14-q15 have been mapped by FISH to tumor metaphases containing t(12;14). 12 YACs and 4 cosmids mapped proximal to and 25 YACs and 3 cosmids mapped distal to the breakpoint on chromosome 12. One YAC spanned the breakpoint with hybridization noted on the normal 12 and the derivative 12 and 14 chromosomes. 13 of 38 YACs were chimeric. Correlation between genetic and physical distances between YACs and cosmids indicates that the genetic distance exceeds the estimated physical distance in 12q14-q15. This region may be more susceptible to recombination events as well as chromosome rearrangement leading to an overestimate of genetic distance, or 12q14-q15 may be more condensed in interphase nuclei leading to underestimates of physical distance. Our efforts are now directed in search of the gene in this region involved in the pathobiology of uterine leiomyomata. The high density genetic map of this region determined by this effort will provide useful information for positional cloning of chromosome 12 breakpoints in other benign solid tumors as well as genes involved in other diseases that map to 12q14-q15.
- OSTI ID:
- 134469
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1203
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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