Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (β3) is a second mutation in Iraqi Jews that stemmed from a distinct founder

Blood

Volumn 89, Issue 10, 1997, Pages 3654-3662

  Rosenberg, Nurit ^a   Yatuv, Rivka ^a   Orion, Yael ^a   Zivelin, Ariella ^a   Dardik, Rima ^a   Peretz, Hava ^a   Seligsohn, Uri ^a,b  

^a TEL AVIV UNIVERSITY   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN IIIA;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEEDING DISORDER; CHROMOSOME 11; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GLANZMANN DISEASE; HUMAN; HUMAN CELL; IRAQ; JEW; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON; THROMBOCYTE AGGREGATION; THROMBOCYTE MEMBRANE;

EID: 0030915793     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v89.10.3654.3654_3654_3662     Document Type: Article

References (29)

1. Ginsberg MH, Loftus JC, Plow EF: Cytoadhesins, integrins and platelets. Thromb Haemost 59:1, 1988
2. Nurden AT: Congenital abnormalities of platelet membrane glycoproteins, in Kunicki TJ, Geoerge JN (eds): Platelet Immunobiology: Molecular and Clinical Aspects. Philadelphia, PA, Lippincott, 1989, p 63
3. Nurden AT, Caen JP: An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia. Br J Haematol 28:253, 1974
4. Seligsohn U, Rosenberg N: Glanzmann thrombasthenia: Clinical and molecular characterization. Rev Iberoam Thromb Hemost 9:18, 1996 (suppl 1)
5. Khanduri U, Pulimood R, Sudarsanam A, Carman RH, Jadhav M, Pereira S: Glanzmann's thrombasthenia. A review and report of 42 cases from South India. Thromb Haemost 46:717, 1981
6. Awidi AS: Increased incidence of Glanzmann's thrombasthenia in Jordan as compared with Scandinavia. Scand J Haematol 30:218, 1983
7. Newman PJ, Seligsohn U, Lyman S. Coller BS: The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc Natl Acad Sci USA 88:3160, 1991
8. Mirghani AM, Ahmed MO, Al-Sohaibani: Inherited bleeding disorders in the eastern province of Saudi Arabia. Acta Haematol 79:202, 1988
9. IIb gene. Blood 86:977, 1995
10. Seligsohn U, Rososhansky S: A Glanzmann's thrombasthenia cluster among Iraqi Jews in Israel. Thromb Haemost 52:230, 1984
11. Coller BS, Seligsohn U, Little PA: Type I Glanzmann's thrombasthenia patients from the Iraqi-Jewish and Arab populations in Israel can be differentiated by platelet glycoprotein IIIa immunoblot analysis. Blood 69:1696, 1987
12. Seligsohn U, Coller BS, Zivelin A, Plow EF. Ginsberg MH: Immunoblot analysis of platelet GPIIb in patients with Glanzmann thrombasthenia in Israel. Br J Haematol 72:415, 1989
13. Shpilberg O, Peretz H, Zivelin A, Yatuv R, Chetrit A, Kulka T, Stern C, Weiss E, Seligsohn U: One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. Blood 85:429. 1995
14. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure of extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215, 1988
15. Jin Y, Dietz HC, Nurden A, Bray PF: 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, 1993
16. Peretz H, Seligsohn U, Zwang E, Coller BS, Newman PJ: 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. Thromb Haemost 66:500, 1991
17. Simsek S, Faber NM, Bleeker PM, Vlekke ABJ, Huiskes E, Goldschmeding R, von dem Born AEGKr: Determination of human platelet antigen frequencies in the dutch population by immunophenotyping and DNA (allele-specific restriction enzyme) analysis. Blood 81:835, 1993
18. Stoffel M, Bell GI: Microsatellite polymorphism in the human platelet glycoprotein IIIa gene (GP3A) on chromosome 17. Nucleic Acids Res 20:1172, 1992
19. Zimrin AB, Gidwitz S, Lord S, Schwartz E, Bennett JS, White GC II, Poncz M: The genomic organization of platelet glycoprotein IIIa. J Biol Chem 265:8590, 1990
20. Rolfs A, Schuller I, Finckh U, Webwe-Rolfs I: PCR: Clinical Diagnostics and Research. Berlin, Germany, Springer-Verlag, 1992, p 201
21. Cooper DN, Krawczak M: Gene deletions, in Cooper DN, Krawczak M (eds): Human Gene Mutation. Oxford, UK, Oxford, 1993, p 163
22. Hu X, Ray PN, Worton RG: Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. EMBO J 10:2471, 1991
23. Hu X, Worton RG: Partial gene duplication as a case of human disease. Hum Mutat 1:3, 1992
24. Jelinek WR, Toomey TP, Leinwand L, Duncan CH, Biro PA, Choudary PV, Weissman SM, Rubin CM, Houck CM, Deininger PL, Schmid CW: Ubiquitous, interspersed repeated sequences in mammalian genome. Proc Natl Acad Sci USA 77:1398, 1980
25. Li L, Bray PF: Homologous recombination among three intragenic Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia. Am J Hum Genet 53:140, 1993
26. Jurka J, Smith T: A fundamental division in the Alu family of repeated sequences. Proc Natl Acad Sci USA 85:4775, 1988
27. Kornreich R, Bishop DF, Desnick RJ: α-Galactosidase A gene rearrangements causing Fabry disease. J Biol Chem 265:9319, 1990
28. Lehrman MA, Russell DW, Goldstein JL, Brown MS: ExonAlu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. Proc Natl Acad Sci USA 83:3679, 1986
29. Bullock P, Champoux JJ, Botchan M: Association of crossover points with topoisomerase I cleavage sites: A model for nonhomologous recombination. Science 230:954, 1985