Intragenic breakpoints localized by array CGH in a t(2;6) familial translocation
| Autor: | Marine Guillaud-Bataille, R. Berger, Alain Bernheim, H. Waxin, S. Toujani, C. Richon, P. Dessen |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Genetics
Daughter media_common.quotation_subject Breakpoint Gene Dosage Chromosome Breakage DNA Biology Familial translocation Translocation Genetic Cell Line Array-Based Comparative Genomic Hybridization Chromosomes Human Pair 2 Karyotyping Humans Chromosomes Human Pair 6 Female DNA Probes Molecular Biology Genetics (clinical) In Situ Hybridization Fluorescence media_common Oligonucleotide Array Sequence Analysis |
| Zdroj: | Cytogenetic and genome research. 119(3-4) |
| ISSN: | 1424-859X |
| Popis: | A 244K genome-wide array based comparative genomic hybridization study was carried out in a familial translocation t(2;6)(p25;p21) balanced in the mother and unbalanced in her daughter. In the past, this translocation has allowed us to localize the HLA multigene cluster to chromosome 6. With microarray technology, confirmation of the chromosome localization of the HLA system was easily obtained, showing that such approach may be applied to the breakpoint localizations of other familial structural changes when they are unbalanced. The disruption of genes at the translocation breakpoints that did not have any phenotypic consequences in the parent will allow the generation of a map of ‘haplotolerant genes’. In addition, many genomic variants were detected with this technology, enlarging the possibility of analyzing their possible contribution to phenotypic diversity. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|