Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem
- MeSH
- ATM protein MeSH
- dítě MeSH
- DNA vazebné proteiny genetika MeSH
- lidé MeSH
- mladiství MeSH
- mutace * MeSH
- mutační analýza DNA MeSH
- nádorové supresorové proteiny genetika MeSH
- předškolní dítě MeSH
- protein-serin-threoninkinasy genetika MeSH
- proteiny buněčného cyklu genetika MeSH
- teleangiektatická ataxie genetika MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Názvy látek
- ATM protein, human MeSH Prohlížeč
- ATM protein MeSH
- DNA vazebné proteiny MeSH
- nádorové supresorové proteiny MeSH
- protein-serin-threoninkinasy MeSH
- proteiny buněčného cyklu MeSH
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.
Zobrazit více v PubMed
Rev Neurol (Paris). 1968 Jan;118(1):60-3 PubMed
Nat Genet. 2006 Aug;38(8):873-5 PubMed
Hum Mutat. 2003 Sep;22(3):181-2 PubMed
Hum Mutat. 2000;15(1):7-12 PubMed
Am J Hum Genet. 1986 Nov;39(5):573-83 PubMed
J Clin Pathol. 2005 Oct;58(10):1009-15 PubMed
Oncogene. 1996 Dec 19;13(12):2707-16 PubMed
Leukemia. 2004 Feb;18(2):238-42 PubMed
J Natl Cancer Inst. 2001 Jan 17;93(2):121-7 PubMed
Eur J Hum Genet. 1998 May-Jun;6(3):235-44 PubMed
Genomics. 1996 Apr 15;33(2):317-20 PubMed
Am J Hum Genet. 1998 Feb;62(2):334-45 PubMed
Ann Hum Genet. 2008 Jan;72(Pt 1):10-8 PubMed
Ann Intern Med. 2000 Nov 21;133(10):770-8 PubMed
Hum Genet. 1990 May;84(6):555-62 PubMed
Am J Hum Genet. 1996 Jul;59(1):40-4 PubMed
Breast Cancer Res Treat. 2007 Aug;104(2):121-8 PubMed
Hum Mutat. 2005 Jun;25(6):593 PubMed
N Engl J Med. 1991 Dec 26;325(26):1831-6 PubMed
Am J Hum Genet. 1999 Jun;64(6):1617-31 PubMed
Mol Genet Metab. 1999 Dec;68(4):419-23 PubMed
Cancer Res. 2008 Aug 15;68(16):6486-91 PubMed
Neurogenetics. 2010 Feb;11(1):1-12 PubMed
Cancer Res. 2003 Jun 15;63(12):3325-33 PubMed
Oncol Rep. 2008 Jun;19(6):1505-10 PubMed
J Natl Cancer Inst. 1986 Jul;77(1):89-92 PubMed
BMC Cancer. 2008 Apr 23;8:117 PubMed
Hum Mol Genet. 1999 Jan;8(1):69-79 PubMed
Neurology. 2009 Aug 11;73(6):430-7 PubMed
Hum Mutat. 2009 Aug;30(8):1222-30 PubMed
Am J Hum Genet. 1998 Jan;62(1):86-97 PubMed
Hum Mutat. 1997;10(2):100-7 PubMed
Am J Hum Genet. 1996 Oct;59(4):839-46 PubMed
Eur J Pediatr. 2006 Apr;165(4):250-7 PubMed
Anal Biochem. 1987 Apr;162(1):156-9 PubMed
