The usefulness of single-strand DNA conformation polymorphism analysis to detect mutations in protein C deficiency

Blood Coagulation and Fibrinolysis

Volumn 8, Issue 8, 1997, Pages 497-502

  Gomez E ^a,b   Poort, S R ^a   Bertina, R M ^a   Reitsma, P H ^a,c  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

PCR; Point mutations; Protein C deficiency; Sequencing; SSCP

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; HUMAN; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN C DEFICIENCY; PROTEIN DETERMINATION; RETROSPECTIVE STUDY; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031466930     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-199711000-00003     Document Type: Article

References (26)

1. Dahlbäck B, Stenflo J. A natural anticoagulant pathway: protein C, S, C4b-binding protein and thrombomodulin. In: Bloom AL, Forbes CD, Thomas DP, Tuddenham EGD, eds. Haemostasis and Thrombosis. Edinburgh: Churchill Livingstone, 1994; 671-698.
2. Foster DC, Yoshitake S, Davie EW. The nucleotide sequence of the gene for human protein C. Proc Natl Acad Sci USA 1985; 82: 4673-4677.
3. Broekmans AW, Conard J. Hereditary protein C deficiency. In: Bertina RM, ed. Protein C and Related Proteins. Edinburgh: Churchill Livingstone, 1988; 160-181.
4. Allaart CF, Poort SR, Rosendaal FR, Reitsma PH, Bertina RM, Briët E. Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. Lancet 1993; 341: 134-138.
5. Marlar RA, Montgomery RR, Broekmans AW. Report on the diagnosis and treatment of homozygous protein C deficiency. Thromb Haemost 1989; 61: 529-531.
6. Bertina RM, Broekmans AW, van Krommenhoek Es C, van Wijngaarden A. The use of functional and immunologic assay for plasma protein C in the study of the heterogeneity of congenital protein C deficiency. Thromb Haemost 1984; 51: 1-5.
7. Reitsma PH, Bernardi F, Doig RG, Gandrille S, Greengard JS, Ireland H, et al. Protein C deficiency: a database of mutations, 1995 update. Thromb Haemost 1995; 73: 876-889.
8. Gandrille S, Alhenc-Gelas M, Gaussem P, Aillaud M-F, Dupuy E, Juhan-Vague I, et al. Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity. Blood 1993; 82: 159-168.
9. Hernández A, Uhrberg M, Enczmann J, Witt I, Reitsma PH, Wernet P. Rapid identification of gene defects in protein C deficiency by temperature gradient gel electrophoresis. Blood Coag Fibrinol 1994; 6: 23-30.
10. Soria JM, Fontcuberta J, Borrell M, Estivill X, Sala N. Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families. Hum Mutat 1992; 1: 428-431.
11. Soria JM, Brito D, Barceló J, Fontcuberta J, Botero L, Maldonado J, et al. Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q → H) in exon 7 of the protein C gene. Thromb Haemost 1994; 72: 65-69.
12. Doig RG, Begley CG, McGrath KM. Hereditary protein C deficiency associated with mutations in exon IX of the protein C gene. Thromb Haemost 1994; 72: 203-208.
13. Miyata T, Sakata T, Zheng Y-Z, Tsukamoto H, Umeyama H, Uchiyama S, et al. Genetic characterization of protein C deficiency in Japanese subjects using a rapid and nonradioactive method for single-strand conformational polymorphism analysis and a model building. Thromb Hacmost 1996; 76: 302-311.
14. Bertina RM. Assays for protein C. In: Bertina RM, ed. Protein C and Related Proteins. Edinburgh: Churchill Livingstone, 1988; 130-150.
15. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487-491.
16. Reitsma PH, Poort SR, Allaart CF, Briët E, Bertina RM. The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects. Blood 1991; 78: 890-894.
17. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand DNA conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2766-2770.
18. Pieneman WC, Deutz-Terlow PP, Reitsma PH, Briët E. Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients. Br J Haematol 1995; 90: 442-449.
19. Sanger F, Nicklen S, Coulsen AR. DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 1977; 74: 5463-5467.
20. Tait RC, Walker ID, Reitsma PH, Islam SIAM, McCall F, Poort SR, et al. Prevalence of protein C deficiency in the healthy population. Thromb Haemost 1995; 73: 87-93.
21. Hayashi K. How sensitive is PCR-SSCP? Hum Mutat 1993; 2: 338-346.
22. Glavac D, Dean M. Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat 1993; 2: 404-414.
23. Liu Q, Sommer SS. Parameters affecting the sensitivities of dideoxy fingerprinting and SSCP. PCR Methods Appl 1994; 4: 97-108.
24. Arruda VR, Pieneman WC, Reitsma PH, Deutz-Terlow PP, Annichino-Bizzacchi JM, Briët E, et al. Eleven novel mutations in the Factor VIII gene from Brazilian hemophilia A patients. Blood 1995; 86: 3015-3020.
25. Sheffield VC, Becj JS, Kwitek AE, Sandstrom DW, Stone EW. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 1993; 16: 325-332.
26. Fan E, Levin DB, Glickman BW, Logan DM. Limitations in the use of SSCP analysis. Mut Res 1993; 288: 85-92.