Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR
| Autor: | Vito Guarnieri, Michelina Coco, Paola Parrella, Vincenzo D'Angelo, Leopoldo Zelante, Serena Belli, Domenico Catapano, Giuseppe Pulcrano, Leonardo D'Agruma, Lucia Anna Muscarella |
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| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Adult
Intracranial Arteriovenous Malformations Male Article Subject Microtubule-associated protein Health Toxicology and Mutagenesis lcsh:Biotechnology lcsh:Medicine Locus (genetics) Biology Cerebral cavernous malformations Proto-Oncogene Proteins lcsh:TP248.13-248.65 Genetics Humans Child KRIT1 Protein Molecular Biology Gene Loss function Sequence Deletion Polymorphism Genetic Brain Neoplasms Reverse Transcriptase Polymerase Chain Reaction Breakpoint lcsh:R General Medicine Middle Aged Molecular biology Pedigree Hemangioma Cavernous Real-time polymerase chain reaction Molecular Medicine Microsatellite Female Microtubule-Associated Proteins Chromosomes Human Pair 7 Research Article Biotechnology |
| Zdroj: | Journal of Biomedicine and Biotechnology, Vol 2010 (2010) Journal of Biomedicine and Biotechnology |
| ISSN: | 1110-7243 |
| DOI: | 10.1155/2010/854737 |
| Popis: | Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to haemorrhagic strokes and focal neurological signs. About 56% of the hereditary forms of CCMs have been so far associated with mutations in theKRIT1(Krev Interaction Trapped 1) gene, located at 7q21.2 (CCM1 locus). We described the complete loss of 7q21.2 locus encompassing theKRIT1gene and 4 flanking genes in a CCM family by using a dense set of 12 microsatellite markers. The complete loss of the maternal copy ofKRIT1gene region was confirmed by Real-Time Quantitative Polymerase Chain Reaction (RT-QPCR) and the same approach was used for expression analysis. Additional RT-QPCR analysis showed the extension of the deletion, for a total of 700 kb, to the adjacent downstream and upstream-located genes,MTERF, AKAP9, CYP51A1, as well as a partial loss of theANKIB1gene. Here we report the molecular characterization of an interstitial small genomic deletion of the 7q21.2 region in a CCMs affected family, encompassing theKRIT1gene. Our findings confirm the loss of function mechanism for the already known CCM1 locus, without any evident involvement of the other deleted genes. Moreover, our investigations highlight the usefulness of the RT-QPCR to the molecular characterization of the breakpoints genomic deletions and to the identification of internal deleted genes involved in the human genetic diseases. |
| Databáze: | OpenAIRE |
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