Ip deletions in human pheochromocytomas share a common pericentromeric breakpoint and do not involve imprinting
- Washington Univ. School of Medicine, St. Louis, MO (United States)
We previously reported that loss of heterozygosity (LOH) of 1p is found in all pheochromocytomas from patients with the Multiple Endocrine Neoplasia type 2 syndromes and in 40% of sporadic pheochromocytomas. We used 24 polymorphic DNA markers to map the deleted region in 27 tumors and found that in all tumors with 1p LOH, the deletion involves the entire short arm. LOH of 1q has not been found. The common breakpoint in these tumors is between D1S514 and D1S442 which defines a 2 centiMorgan interval which includes the centromere. To determine whether genomic imprinting plays a role in 1p deletion in these tumors, parental DNA was obtained for eight individuals with pheochromocytomas and the parental DNA was obtained for eight individuals with pheochromocytomas and the parental origin of allelic loss determined. In four cases the paternal allele was lost and in four cases, the maternal allele was lost. In addition, allelic loss was examined in multifocal or bilateral tumors from five individuals. 1p LOH was demonstrated in all tumors examined, but in two patients, tumors from different sites demonstrated opposite patterns of allelic loss, indicating that either maternal or paternal alleles may be lost in different tumors from the same individual. These data show that deletion of 1p is a significant event in the development of human pheochromocytomas, and involves a common breakpoint in the pericentromeric area. Allelic deletion is not influenced by the parent of origin.
- OSTI ID:
- 133540
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0268
- 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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