Further characterization of the ABR gene in medulloblastoma
Journal Article
·
· American Journal of Human Genetics
OSTI ID:133605
- Univ. of Chicago, IL (United States); and others
Although brain tumors are the most common type of solid cancer in children, little is known about their etiology at the molecular genetic level. Using a panel of 20 chromosome 17p markers, we have previously determined that loss of distal chromosome 17p DNA sequences occurs in 14 of 35 specimens (40%) of medulloblastoma, one of the most common pediatric intracranial neoplasms. Analysis of these same tumors using a PCR-denaturing gradient gel electrophoresis technique has shown only two p53 gene mutations. These results suggest that a tumor suppressor gene in addition to p53 may be located on distal chromosome 17p. Consensus deletion mapping of our specimens suggests that the smallest site of chromosomal loss in defined distally by marker 144-D6, the most telomeric probe as yet identified on chromosome 17p, and proximally by the ABR marker, a BCR homologous gene containing two highly polymorphic VNTR regions. We have used fluorescence in situ hybridization and pulsed-field gel electrophoresis to determine that the ABR gene lies transcriptionally oriented 5{prime} to 3{prime} at a distance of 240 kb from marker 144-D6. We have also constructed a cosmid contig map spanning 120 kb of this region. Using one of these cosmids as a probe, we have detected breakpoints in three of the tumor specimens that lie between the two VNTR regions within the ABR gene. We have subsequently designed PCR primers to cover the breakpoint region which include the ABR exons which have the strongest homology to the BCR gene (Mbcr region), and are screening our tumor specimens for mutations. These results suggest that loss of ABR gene sequences may be involved in the etiology of medulloblastoma.
- OSTI ID:
- 133605
- 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
Similar Records
Physical mapping of chromosome 17p13.3 in the region of a putative tumor suppressor gene important in medulloblastoma
Molecular genetics of pediatric brain stem gliomas. Application of PCR techniques to small and archival brain tumor specimens
Molecular dissection of a contiguous gene syndrome: Frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated island in the Miller-Dieker chromosome region
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· Genomics
·
OSTI ID:186070
Molecular genetics of pediatric brain stem gliomas. Application of PCR techniques to small and archival brain tumor specimens
Journal Article
·
Wed Sep 01 00:00:00 EDT 1993
· Journal of Neuropathology and Experimental Neurology; (United States)
·
OSTI ID:5428512
Molecular dissection of a contiguous gene syndrome: Frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated island in the Miller-Dieker chromosome region
Journal Article
·
Sat Jul 01 00:00:00 EDT 1989
· Proceedings of the National Academy of Sciences of the United States of America; (USA)
·
OSTI ID:5227584