Systematic screening for genetic polymorphism in human platelet glycoprotein Ib(alpha)

Immunogenetics

Volumn 44, Issue 3, 1996, Pages 170-176

  Kaski, Satu ^a   Kekomäki, Riitta ^a   Partanen, Jukka ^a  

^a FINNISH RED CROSS BLOOD SERVICE   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE RECEPTOR; GLYCOPROTEIN IB; RESTRICTION ENDONUCLEASE; VON WILLEBRAND FACTOR;

ALLOIMMUNITY; AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; FINLAND; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; HUMAN CELL; NORMAL HUMAN; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; THROMBOCYTOPENIA;

PURPURA;

EID: 0029897135     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02602582     Document Type: Article

References (28)

1. Bizzaro, N. and Dianese, G. Neonatal alloimmune amegakaryocytosis. Vox Sang 54: 112-114, 1988
2. Clemetson, K. J., McGregor, J. L., James, E., Dechavanne, M., and Lucher, E. Characterization of the platelet membrane glycoprotein abnormalities in Bernard-Soulier syndrome and comparison with normal by surface-labeling techniques and high-resolution two-dimensional gel electrophoresis. J Clin Invest 70: 304-311, 1982
3. Fan, E., Levin, D. B., Glickman. B. W., and Logan, D. M. Limitations in the use of SSCP analysis. Mutat Res 288: 85-92, 1993
4. Forrest, S., Cotton, R., Landegren, U., and Southern, E. How to find all those mutations. Nat Genet 10: 375-376, 1995
5. Glavac, D. and Dean, M. Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat 2: 404-414, 1993
6. Hayashi, K. and Yandell, D. W. How sensitive is PCR-SSCP? Hum Mutat 2: 338-346, 1993
7. 145. Blood 86: 1356-1360, 1995
8. Kekomäki, S., Partanen, J., and Kekomäki, R. Platelet alloantigens HPA-1, -2, -3, -5, and -6b. Finns Transfus Med: 193-198, 1995
9. Kozak, M. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acid Res 15: 8125-8148, 1987
10. Kujipers, R. W. A. M., Ouwehand, W. H., Bleeker, P. M. M., Christie, D., and von dem Borne, A. E. G. Kr. Localization of the platelet-specific HPA-2 (Ko) alloantigens on the N-terminal globular fragment of platelet glycoprotein Ibα. Blood 79: 283-288, 1992a
11. Kuijpers, R. W. A. M., Faber, N. M., Cuypers, H. T. M., Ouwehand, W. H., and von dem Borne, A. E. G. Kr. NH2-terminal globular domain of human platelet glycoprotein Ibα has a methionine/threonine amino acid polymorphism, which is associated with the HPA-2 (Ko) alloantigens. J Clin Invest 89: 381-384, 1992b
12. Leren, T. P., Solberg, K., Rodningen, O. K., Ose, L., Tonstad, S., and Berg, K. Evaluation of running conditions for SSCP analysis: application of SSCP for detection of point mutations in the LDL receptor gene. PCR Meth Appl 3: 159-162, 1993
13. Lopez, J. A. The platelet glycoprotein Ib-IX complex. Blood Coagulat Fibrinol 5: 97-119, 1994
14. 2-glycoprotein. Proc Natl Acad Sci USA 84: 5615-5619, 1987
15. Lopez, J. A., Leung, B., Reynolds. C. C., Li, C. Q., and Fox, J. E. B. Efficient plasma membrane expression of a functional platelet glycoprotein Ib-IX complex requires the presence of its three subunits. J Biol Chem 267: 12851-12859, 1992a
16. Lopez, J. A., Ludwig, E. H., and McCarthy, B. J. Polymorphism of human glycoprotein Ibα results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region. J Biol Chem 267: 10055- 10061, 1992b
17. Meyer, M. and Schellenberg, I. Platelet membrane glycoprotein Ib: genetic polymorphism detected in the intact molecule and in proteolytic fragments. Thromb Res 58; 233-242, 1990
18. Miller, J. L., Cunningham, D., Lyle, V. A., and Finch, C. N. Mutation in the gene encoding the α chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Nail Acad Sci USA 88: 4761-4765, 1991
19. Miller, A. S., Dykes, D. D., and Polesky, H. F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 16: 1215, 1988
20. Moroi, M., Jung, S. M., and Yoshida, N. Genetic polymorphism of platelet glycoprotein Ib. Blood 64: 622-629, 1984
21. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K., and Sekiya, T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 8: 2766-2770, 1989
22. a. involved in platelet transfusion refractoriness in a Japanese man. Vox Sang 56: 283-287, 1989
23. Sheffield, V. C., Beck, J. S., Kwitek, A. E., Sandstöm, D. W., and Stone, E. M. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitution. Genomics 16: 325-332, 1993
24. Simsek, S., Admiraal, L. G., Modderman, P. W., van der Schoot, C. E., and von dem Borne. A. E. G. Kr. Identification of a homozygous single base pair deletion in the gene coding for the platelet glycoprotein Ibα causing Bernard-Soulier syndrome. Thromb Haemost 72: 129-141, 1994a
25. Simsek, S., Bleeker, P. M. M., van der Schoot, C. E., and von dem Borne, A. E. G. Kr. Association of a variable number of tandem repeats (VNTR) in glycoprotein Ibα and HPA-2 alloantigens. Thromb Haemost 72: 757-761, 1994b
26. Van der Weerdt, Ch. M., van der Wiel, D., Engelfriet, C. P., and van Loghem, J. J. A new platelel antigen. Proceedings of the 8th Congress of European Society for Haematology, p. 379, Karger, Basel, 1961
27. Wenger, R. H., Kieffer, N., Wicki, A. N., and Clemetson, K. J. Structure of the human blood platelet membrane glycoprotein Ibα gene. Biochem Biophvs Res Commun 156: 389-395, 1988
28. Wenger, R. H., Wicki, A. N., Kieffer, N., Adolph, S., Hameister, H., and Clemelson, K. J. The 5′ flanking region and chromosomal localization of the gene encoding human platelet membrane glycoprotein Ibα. Gene 85: 517-524, 1989