Abstract
In a number of genetic disorders with an autosomal recessive mode of inheritance, increased spontaneous and/or induced chromosomal instability has been found. The knowledge of the underlying gene mutations and their consequences for the cellular repair processes will undoubtedly broaden our understanding of this vital cellular function. The classical chromosomal instability syndromes are Bloom’s syndrome (BS), Fanconi’s anaemia (FA) and ataxia telangiectasia (AT), all of which express specific cytogenetic peculiarities. The diagnosis of these syndromes is still generally based on cytogenetic analyses. This is due, firstly, to our inability to reliably identify all patients on the basis of clinical examination alone and, secondly, to the lack of appropriate molecular probes.
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References
Chaganti RS, Schonberg S, German J (1974) A manifold increase in sister chromatid exchanges in Bloom’s syndrome lymphocytes. Proc Natl Acad Sci USA 71: 4508–4512
Digweed M, Günthert U (1989) Recombinant selection by microinjection: a simple cDNA cloning procedure for production of exclusively sense RNA transcripts. Gene 83: 147–152
Digweed M, Sperling K (1989) Identification of a HeLa mRNA fraction which can correct the DNA-repair defect in Fanconi anaemia fibroblasts. Mutat Res 218: 171–177
Gatti RA, Berkel I, Boder E et al. (1988) Localization of an ataxia-telangiectasia gene to chromosome 11q22–23. Nature 336: 577–580
Jaspers NGJ, Taalman RDFM, Baan C (1988a) Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia. Am J Hum Genet 42: 66–73
Jaspers NGJ, Gatti RA, Baan C, Linssen PCML, Bootsma D (1988b) Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet 49: 259–263
Kapp LN, Painter RB, Yu LC, v Loon N, Richard CW, James MR, Cox DR, Murnane JP (1992) Cloning of a candidate gene for ataxia-telangiectasia group D. Am J Hum Genet 51: 45–54
Mann WR, Venkatraj VS, Allen RG, Liu Q, Olsen DA, Adler-Brecher B, Mao J-I, Weiffenbach B, Sherman SL, Auerbach AD (1991) Fanconi anemia: evidence for linkage heterogeneity on chromosome 20q. Genomics 9: 329–337.
Mouchegh K, Digweed M, Zoller B, Rahmsdorf F1-J, Sperling K (1991) Transiente Komplementation von DNA-Reparatur-Defekten in xeroderma pigmentosum and Fanconi Anämie Fibroblasten durch Mikroinjektion von mRNA. Int J Radiat Biol 59: 576
Rary JM, Bender M, Kelly TE (1974) Cytogenetic studies of ataxia telangiectasia. Am J Hum Genet 26: 70A
Rommens JM, lannuzzi MC, Kerem B-S, et al. (1989) Identification of the Cystic Fibrosis Gene: chromosome walking and jum**. Science 245: 1059–1065
Sasaki MS, Tonomura A (1973) A high susceptibility of Fanconi’s anemia to chromosome breakage by DNA cross-linking agents. Cancer Res 33: 1829–1836
Schroeder TM, Anschutz F, Knopp A (1964) Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Humangenetik 1: 119–132
Seemanova E, Passarge E, Beneskova D, Houstek J, Kasal P, Sevcikova M (1985) Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. Am J Med Genet 20: 639–648
Sperling K (1983) Analisi dell’eterogeneita nell’uomo. Prospettive in pediatria 49: 53–66
Strathdee CA, Duncan AMV, Buchwald M (1992b) Evidence for at least four Fanoni anaemia genes including FACC on chromosome 9. Nature genetics 1: 196–198
Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992a) Cloning of cDNAs for Fanconi’s anaemia by functional complementation. Nature 356: 763–767
Taylor AMR, Rosney CM, Campbell JB (1979) Unusual sensitivity of ataxia telangiectasia cell to bleomycin, Cancer Res 39: 1046–1050
Weemaes CMR, Hustinx TWJ, Scheres JMJC, van Munster PJJ, Bakkeren JAJM, Taalman RDFM (1981) A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 70: 557–564
Wegner R-D, Metzger M, Hanefelt F, Jaspers NGJ, Baan C, Magdorf K, Kunze J, Sperling K (1988) A new chromosome instability disorder confirmed by complementation studies. Clin Genet 33: 20–32
Wegner R-D (1991a) Cytogenetic characterization of human disorders with increased spontaneous and induced chromosomal instability. In: Sobti RC, Obe G (eds) Eukaryotic chromosomes: structural and functional aspects. Narosa Publishing House, New Delhi Madras Bombay Calcutta, pp 126–152
Wegner R-D (1991b) Chromosomal instability syndromes in man. In: Obe G (ed) Advances in Mutagenesis Research 3. Springer, Berlin Heidelberg New York Tokyo, pp 81–117
Wilkie PJ, Krizman BB, Weber JL (1992) Linkage map of human chromosome 9 microsatellite polymorphisms. Genomics 12: 607–609
Ziv Y, Rotman G, Frydman M et al. (1991) The ATC (ataxia-telangiectasia group c) ioms localizes to chromosome 11q22-q23. Genomics 9: 373–375
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© 1994 Springer-Verlag Berlin Heidelberg
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Wegner, RD., Reis, A., Digweed, M. (1994). Cytogenetic and Molecular Investigations in Chromosomal Instability Syndromes. In: Obe, G., Natarajan, A.T. (eds) Chromosomal Alterations. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-78887-1_27
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DOI: https://doi.org/10.1007/978-3-642-78887-1_27
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