caa a22 4500 397574320 CHVBK 20180308164850.0 cr unu---uuuuu 161202e199601 xx s 000 0 eng 10.1093/hmg/5.1.145 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.1.145 Mutations Revealed by Sequencing the 5′ Half of the Gene for Ataxia Telangiectasia [Elektronische Daten] [P. J. Byrd, C. M. McConville, P. Cooper, J. Parkhill, T. Stankovic, G. M. McGuire, J. A. Thick, A. M. R. Taylor] Ataxia telangiectasia is a recessive disorder in which patients show a progressive cerebellar degeneration leading to ataxia, abnormal eye movements and deterioration of speech. Other features include ocular telangiectasia, high serum AFP levels, immunodeficiency, growth retardation and an increased predisposition to some tumours, particularly T cell leukaemia and lymphoma. We report the 1348 amino acid sequence of the N-terminal half of the A-T gene product which, together with the previously published C-terminal half, completes the sequence of the A-T protein. No homologies with other genes have been found within the N-terminal half of the A-T protein. We have also identified six mutations affecting the N-ter-minal half of the protein. One of these mutations was found to be associated with a haplotype that is common to four apparently unrelated families of Irish descent. All the patients so far examined for both A-T alleles were shown to be compound heterozygotes. None of these mutations affected a putative promoter region which may direct divergent transcription of both the A-T gene and a novel gene E14. The ability to recognise mutations across the entire coding sequence of the A-T gene provides a practical advantage to A-T families since a DNA based prenatal diagnosis will be possible in families where the mutations are identified irrespective of the level of radiosensitivity in these families. © 1996 Oxford University Press Byrd P. J. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut McConville C. M. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut Cooper P. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut Parkhill J. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut Stankovic T. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut McGuire G. M. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut Thick J. A. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut Taylor A. M. R. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut Human Molecular Genetics Oxford University Press 5/1(1996-01), 145-149 0964-6906 5:1<145 1996 5 hmg https://doi.org/10.1093/hmg/5.1.145 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.1.145 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Byrd P. J. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut NATIONALLICENCE 700 1- McConville C. M. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut NATIONALLICENCE 700 1- Cooper P. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut NATIONALLICENCE 700 1- Parkhill J. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut NATIONALLICENCE 700 1- Stankovic T. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut NATIONALLICENCE 700 1- McGuire G. M. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut NATIONALLICENCE 700 1- Thick J. A. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut NATIONALLICENCE 700 1- Taylor A. M. R. Institute for Cancer Studies, The Medical School, University of Birmingham, Edgbaston, Birmingham, B15 2TJ, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/1(1996-01), 145-149 0964-6906 5:1<145 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford