Molekulargenetische Methoden zur Diagnostik von hereditären Gerinnungsstörungen

R. Schwaab; H.-H. Brackmann; J. Oldenburg

doi:10.1055/s-0038-1660358

Hämostaseologie, Table of Contents

Hamostaseologie 1994; 14(04): 149-158
DOI: 10.1055/s-0038-1660358

Übersichtsarbeiten/Review Articles

Schattauer GmbH

Molekulargenetische Methoden zur Diagnostik von hereditären Gerinnungsstörungen

R. Schwaab

¹Institut für Experimentelle Hämatologie und Transfusionsmedizin (Direktor: Prof. Dr. med. Peter Hanfland), Universität Bonn

,

H.-H. Brackmann

¹Institut für Experimentelle Hämatologie und Transfusionsmedizin (Direktor: Prof. Dr. med. Peter Hanfland), Universität Bonn

,

J. Oldenburg

¹Institut für Experimentelle Hämatologie und Transfusionsmedizin (Direktor: Prof. Dr. med. Peter Hanfland), Universität Bonn

› Author Affiliations

Abstract

Zusammenfassung

Innerhalb dieser Übersicht sollen Direktsequenzierung, Voruntersuchungsmethoden und spezifische Mutationstests für die molekulargenetische Diagnostik von hereditären Gerinnungsstörungen vorgestellt und deren unterschiedliche Einsatzmöglichkeiten diskutiert werden. Wenn eine familienspezifische Mutation gefunden ist, kann allen Angehörigen eine direkte Überträgerdiagnostik angeboten werden. Da in vielen betroffenen Familien die für die Erkrankung ursächliche Mutation nicht bekannt ist, werden die Prinzipien der indirekten Überträgerdiagnostik ebenfalls vorgestellt.

Schlüsselwörter

Gerinnungsstörungen - Mutation - Polymorphismus - spezifische Mutationsnachweismethoden - Voruntersuchungsmethoden - Überträgerdiagnostik

Full Text

References

LITERATUR
1 Cooper DN, Krawczak M. Cytosine méthylation and the fate of CpG dincucleotides in vertebrate genomes. Human Genetics 1989; 83: 181-8.
2 Lakich D, Kazazian Jr HH, Antonarakis SE, Gitschieer J. Inversions disrupting the factor VIII gene are common cause of severe haemophilia. Nature Genetics 1993; 05: 236-41.
3 Wong C, Dowling CE, Saiki RK. et al. Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature 1987; 330: 384-6.
4 Myers RM, Maniatis T, Lerman LS. Detection and localisation of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 1987; 155: 501-27.
5 Cotton RG, Rodrigues NR, Campbell RD. Reactivity of cytosine and thymine in singlebase pair mismatches with hydroxylamine and osmium tetroxyde and its application to the study of mutations. Proc Natl Acad Sci USA 1988; 85: 4397-401.
6 Peake IR, Lillicrap DP, Boulyjenkov V. et al. Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis. Blood Coagul Fibrinolysis 1993; 04: 313-44.
7 Botstein D, White RL, Skolnick M, Davis RW. Construcion of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 1980; 32: 314-31.
8 Mullis KB, Falcona FA. Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Meth Enzymol 1987; 155: 335-50.
9 Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci 1977; 74: 5463-7.
10 Gyllensten U, Ehrlich HA. Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci USA 1988; 85: 7652-6.
11 Hultmann T, Bergh S, Moks T, Uhlen M. Bidirectional solid-phase sequencing of in vitro-amplified plasmid DNA. BioTechniques 1991; 10: 84-93.
12 Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 05: 874-9.
13 Abrams ES, Murdaugh SE, Lerman L. Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp. Genomics 1990; 07: 463-75.
14 Zheng H. Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells. Proc Natl Acad Sci USA 1991; 88: 8067-71.
15 Richardson CC. Phosphorylation of nucleic acid by an enzyme from T4 bacteriophageinfected Escherichia coli. Proc Natl Acad Sci USA 1965; 54: 158-63.
16 Verpy E, Biasotto M, Meo T, Tosi M. Efficient detection of point mutations on colourcoded strands of target DNA. Proc Natl Acad Sci 1994; 91: 1873-7.
17 Lerman L, Silverstein K. Computional simulation of DNA melting and ist application to denaturing gradient gel electrophoresis. Methods Enzymol 1987; 155: 482-501.
18 Riesner D, Steger G, Zimmart R. et al. Detection of single-base changes by the temperature gradient gel electrophoresis. Electrophoresis 1989; 10: 377-82.
19 Wollina K, Bowen DJ, Syrbe G, Zintle F. Female twins with severe Christmas disease (hemophilia B). Thromb Haemost 1993; 70: 774-6.
20 Jochmans K, Lissens W, Vervoort R. et al. Antithrombin-gly 424 arg: a novel mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis. Blood 1994; 83: 146-51.
21 Higuchi M, Antonarakis SE, Kasch L. et al. Molecular characterization of mild-tomoderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1991; 88: 8307-11.
22 Gitschier J, Wood W, Goralka KL. et al. Characterization of the human factor VIII gene. Nature 1984; 312: 326-30.
23 Jenny RJ, Pittman DD, Toole JJ. et al. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci USA 1987; 84: 4846-50.
24 Michaelides K, Schwaab R, Lalloz MRA. et al. Mutational analysis: new mutations. In: PCR II -A Practical Approach. Taylor McPherson, Hames (eds), Oxford: IRL Press; (in press).
25 Gubler U, Hofmann BJ. A simple and very efficient method for generating cDNA libraries. Gene 1983; 25: 263-9.
26 Chelly J, Concordet JP, Kaplan JC, Kahn A. Illegitimate transcription: transcription of any gene in any cell type. Proc Natl Acad Sci USA 1989; 86: 2617-21.
27 Berg LP, Wieland K, Millar DS. et al. Detection of a novel point mutation causig haemophilia A by PCR/direct sequencing of ectopically transcribed factor VIII mRNA. Hum Genet. 1990
28 Naylor JA, Green PM, Montandon AJ. et al. Detection of three novel haemophilia A patients by rapid screening of whole essential region of factor VIII gene. Lancet 1991; 337: 635-9.
29 Orkin SH, Little PFR, Kazazian HH, Boehm CD. Improved detection of the sickle mutation by DNA analysis. N Engl J Med 1982; 307: 32-6.
30 Millar DS, Zoll B, Martinowitz U. et al. The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme Taql. Hum Genet 1991; 87: 607-12.
31 Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975; 98: 503-17.
32 Lemna WK, Feldman GL, Kerem BS. et al. Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med 1990; 322: 291-6.
33 Wu DY, Ugozzoli L, Pal BK, Wallace RB. Allele-specific enzymatic amplification of ß-globin genomic DNA for diagnosis of sickle cell anemia. Proc Natl Acad Sci 1989; 86: 2757-60.
34 Chehab FF, Kan YW. Detection of sickle cell anemia mutation by colour DNA amplification. Lancet 1990; 335: 15-7.
35 Bertina RM, Koeleman BPC, Koster T. et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.