Characterisation of ATM Mutations in Slavic Ataxia Telangiectasia Patients
| Autor: | Petr Pohlreich, Eva Seemanova, Jana Soukupova |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Genome instability Adolescent DNA Mutational Analysis Population Cell Cycle Proteins Locus (genetics) Ataxia Telangiectasia Mutated Proteins Telangiectases Protein Serine-Threonine Kinases Biology Ataxia Telangiectasia Cellular and Molecular Neuroscience medicine Humans Multiplex ligation-dependent probe amplification Child education Gene Czech Republic Genetics education.field_of_study Tumor Suppressor Proteins medicine.disease Molecular biology DNA-Binding Proteins Neurology Child Preschool Mutation Ataxia-telangiectasia Molecular Medicine Female Ataxia telangiectasia and Rad3 related |
| Zdroj: | NeuroMolecular Medicine. 13:204-211 |
| ISSN: | 1559-1174 1535-1084 |
| Popis: | Ataxia telangiectasia (AT) is a genomic instability syndrome characterised, among others, by progressive cerebellar degeneration, oculocutaneous telangiectases, immunodeficiency, elevated serum alpha-phetoprotein level, chromosomal breakage, hypersensitivity to ionising radiation and increased cancer risk. This autosomal recessive disorder is caused by mutations in the ataxia telangiectasia mutated (ATM) gene coding for serine/threonine protein kinase with a crucial role in response to DNA double-strand breaks. We characterised genotype and phenotype of 12 Slavic AT patients from 11 families. Mutation analysis included sequencing of the entire coding sequence, adjacent intron regions, 3'UTR and 5'UTR of the ATM gene and multiplex ligation-dependent probe amplification (MLPA) for the detection of large deletions/duplications at the ATM locus. The high incidence of new and individual mutations demonstrates a marked mutational heterogeneity of AT in the Czech Republic. Our data indicate that sequence analysis of the entire coding region of ATM is sufficient for a high detection rate of mutations in ATM and that MLPA analysis for the detection of deletions/duplications seems to be redundant in the Slavic population. |
| Databáze: | OpenAIRE |
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