Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17

British Journal of Haematology

Volumn 102, Issue 2, 1998, Pages 582-587

  French, Deborah L ^a   Coller, Barry S ^a   Usher, Saly ^b   Berkowitz, Richard ^a   Eng, Christine ^a   Seligsohn, Uri ^c   Peretz, Hava ^b,c  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^c SHEBA MEDICAL CENTER   (Israel)

Author keywords

Glanzmann thrombasthenia; Haplotype; Mutation; Polymorphism; Prenatal diagnosis

Indexed keywords

ARTICLE; BLEEDING; CASE REPORT; CHROMOSOME 17; FEMALE; GENE MAPPING; GENE MUTATION; GLANZMANN DISEASE; HUMAN; ISRAEL; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0031850970     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.00798.x     Document Type: Article

References (30)

1. Anderson, L.A., Friedman, L., Osborne-Lawrence, S., Lynch, E., Weissenbach, J., Bowcock, A. & King, M.-C. (1993) High-density genetic map of the BRCA1 region of chromosome 17q12-q21. Genomics, 17, 618-623.
2. Bray, P.F., Barsh. G., Rosa, J.-P., Juo, X.Y., Magenis, E. & Shuman, M.A. (1988) Physical linkage of the genes for platelet membrane glycoproteins IIb and IIIa. Proceedings of the National Academy of Sciences of the United States of America, 85, 8683-8687.
3. Burk, C.D., Newman, P.J., Lyman. S., Gill, J., Coller, B.S. & Poncz. M. (1991) A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. Journal of Clinical Investigation, 87, 270-276.
4. Cheresh, D.A. & Spiro, R.C. (1987) Biosynthetic and functional properties of an arg-gly-asp-directed receptor involved in human melanoma cell attachment to vitronectin, fibrinogen, and von Willebrand factor. Journal of Biological Chemistry, 262, 17703-17711.
5. Coller, B.S., Cheresh, D.A., Asch, E. & Seligsohn, U. (1991) Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann thrombasthenia in Israel. Blood, 77, 75-83.
6. Coller, B.S., Peerschke, E.I., Scudder, L.E. & Sullivan, C.A. (1983) A murine monoclonal antibody that completely blocks the binding of fibrinogen to platelets produces a thrombasthenic-like state in normal platelets and binds glycoproteins IIb and/or IIIa. Journal of Clinical Investigation, 72, 325-358.
7. Coller, B.S., Seligsohn, U., Zivelin, A., Zwang, E., Lusky, A, & Modan, M. (1986) Immunologic and biochemical characterization of homozygous and heterozygous Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel: comparison of techniques for carrier detection. British Journal of Haematology, 62, 723-735.
8. French, D.L. & Coller, B.S. (1996) Hematologically important mutations: Glanzmann thrombasthenia. Blood Cells, Molecules, and Diseases, 23, 39-51.
9. Futreal, P.A., Barrett, J.C. & Wiseman, R.W. (1992) Dinucleotide repeat polymorphism in the THRA1 gene. Human Molecular Genetics, 1, 66.
10. George, J.N., Caen, J.P. & Nurden, A.T. (1990) Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood, 75, 1385-1595.
11. 3) in a Chinese patient with Glanzmann's thrombasthenia. Blood, 88, 1666-1675.
12. Hall, J.M., Lee, M.K., Newman, B., Morrow, J.E., Anderson, L.A., Huey, B. & King, M.-C. (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science, 250, 1684-1689.
13. Heidenreich, R., Eisman, R., Surrey, S., Delgrosso, K., Bennett, J.S., Schwartz, E. & Poncz, M. (1990) Organization of the gene for platelet glycoprotein IIb. Biochemistry, 29, 1232-1244.
14. Jin, Y., Dietz, H.C., Nurden, A. & Bray, P.F. (1993) Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa. Blood, 82, 2281-2288.
15. b alloantigen system. Blood, 75, 2343-2348.
16. 327 for β3 integrin subunit association. Blood, 90, 669-677.
17. Newman, P.J., Seligsohn, U., Lyman, S. & Coller, B.S. (1991) The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proceedings of the National Academy of Sciences of the United States of America, 88, 3160-3164.
18. Peretz, H., Seligsohn, U., Zwang, E., Coller, B.S. & Newman, P.J. (1991) Detection of the Glanzmann's thrombasthenia mutations in Arab and Iraqi-Jewish patients by polymerase chain reaction and restriction analysis of blood or urine samples. Thrombosis and Haemnostasis, 66, 500-504.
19. Peretz, H., Yakobson, E. Korostishevsky, M., Usher, S. & Seligsohn, U. (1995) Recombination distance between platelet glycoprotein IIB and glycoprotein IIIA genes. (Abstract). Thrombosis and Haemostasis, 73, 1195.
20. Poncz, M., Rifat, S., Coller, B.S., Newman, P.J., Shattil, S.J., Parrella, T., Fortina, P. & Bennett. J.S. (1994) Glanzmann thrombasthenia secondary to a Gly273Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. Journal of Clinical Investigation, 93, 172-179.
21. 3) is a second mutation in Iraqi Jews that stemmed from a distinct founder. Blood, 89, 3654-3662.
22. Ruan, C.G., Gu, J.M., Wang, X.D., Chu, X.H. & Pan, J.L. (1993) Application of GPIIIa gene Taq I polymorphism to determination of carrier status in Glanzmann's thrombasthenia families of Chinese origin. Thrombosis and Haemostasis, 68, 64-69.
23. IIb gene. Blood, 86, 977-982.
24. Seligsohn, U., Mibashan, R.S., Rodeck, C.H., Nicolaides, K.H., Millar, D.S. & Coller, B.S. (1985) Prenatal diagnosis of Glanzmann's thrombasthenia. (Letter). Lancet, ii, 1419.
25. Seligsohn, U. & Rososhansky, S. (1984) A Glanzmann's thrombasthenia cluster among Iraqi Jews in Israel. (Letter). Thrombosis and Haemostasis, 52, 230-231.
26. Sosnoski, D.M., Emanuel, B.S., Hawkins, A.L., van Tuilen, P., Ledbetter, D.H., Nussbaum, R.L. Kaos, F.-T. Schwartz, E., Phillips, D.R., Bennett, J.S., Fitzgerald, L.A. & Poncz, M. (1988) Chromosomal localization of the genes for the vitronectin and the fibronectin receptors α subunits and for platelet glycoprotein IIb and IIIa. Journal of Clinical Investigation. 81. 1993-1998.
27. Stoffel, M. & Bell, G.I. (1992) Microsatellite polymorphism in the human platelet glycoprotein IIIa gene (GP3A) on chromosome 17. Nucleic Acids Research, 20, 1172.
28. Villa-Garcia, M., Li, L., Riely, G. & Bray, P.F. (1994) Isolation and characterization of a TATA-less promoter for the human β3 integrin gene. Blood, 83, 668-676.
29. Vinciguerra, C., Khelif, A., Alemany, M., Morle, F., Grenier, C., Uzan, G., Gulino, D., Dechavanne, M. & Negrier, C. (1996) A nonsense mutation in the GPIIb heavy chain (Ser 870→stop) impairs platelet GPIIb-IIIa expression. British Journal of Haematology, 95, 399-407.
30. Zimrin, A.B., Gidwitz, S., Lord, S., Schwartz, E., Bennett, J.S., White, G.C.I. & Poncz, M. (1990) The genomic organization of platelet glycoprotein IIIa. Journal of Biological Chemistry, 265, 8590-8595.