Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium
| Autor: | H.M. Schüler, Kerstin Kutsche, A. Pomarino, C. Althaus, E. Glauner, T.O. Goecke, A.J. Kersten, Hans Gerd Nothwang, B. Schröder, M. Schmidt, S. Knauf, Andreas Gal |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Hamartoma Retinal Neoplasms Chromosomal translocation Translocation Genetic Contig Mapping Chromosome 18 Genetics medicine Humans PTEN Cloning Molecular Pigment Epithelium of Eye Chromosomes Artificial Yeast Molecular Biology In Situ Hybridization Fluorescence Genetics (clinical) Expressed Sequence Tags Retinal pigment epithelium biology Contig Chromosomes Human Pair 11 Breakpoint food and beverages Chromosome Chromosome Breakage Exons medicine.disease Introns medicine.anatomical_structure biology.protein Female Chromosomes Human Pair 18 |
| Zdroj: | Cytogenetic and Genome Research. 91:141-147 |
| ISSN: | 1424-859X 1424-8581 |
| Popis: | Mutations of various tumor suppressor genes, e.g., PTEN, TSC1, and TSC2, are known to be responsible for different inherited diseases presenting with multiple hamartomas, a benign tumor resembling neoplasia that results from faulty organ development. Combined hamartoma of the retinal pigment epithelium (RPE) and retina is a rare, congenital, focal malformation of the fundus. So far, no disease gene has been associated with this disorder. By molecular analysis of an apparently balanced and reciprocal translocation between the short arms of chromosomes 11 and 18, t(11;18)(p13;p11.31), in a patient with hamartoma of the RPE and retina, we selected PAC clones crossing the breakpoints on both derivative chromosomes 11 and 18. For the overlapping chromosome 11 clone, two EST clusters were identified, suggesting the existence of at least two genes in the breakpoint region. We constructed a PAC contig and showed that at least three exons of a novel gene map to the breakpoint region on chromosome 18. Based on the results of FISH analysis with the PAC clones of this contig, we suggest the occurrence of a complex rearrangement. |
| Databáze: | OpenAIRE |
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