메뉴 건너뛰기




Volumn 19, Issue 9, 2011, Pages 981-987

Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families

Author keywords

founder effect; French Gypsies; Glanzmann thrombasthenia; integrin IIb 3

Indexed keywords

ADULT; AGE; ARTICLE; CHROMOSOME 17; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENOTYPE; GLANZMANN DISEASE; HAPLOTYPE; HETEROZYGOTE DETECTION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE;

EID: 80052022282     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.61     Document Type: Article
Times cited : (33)

References (30)
  • 2
    • 0021706830 scopus 로고
    • A Glanzmann's thrombasthenia cluster among Iraqi Jews in Israel
    • Seligsohn U, Rososhansky S: A Glanzmann's thrombasthenia cluster among Iraqi Jews in Israel. Thromb Haemost 1984; 52: 230-231. (Pubitemid 15156392)
    • (1984) Thrombosis and Haemostasis , vol.52 , Issue.3 , pp. 230-231
    • Seligsohn, U.1    Rososhansky, S.2
  • 3
    • 0020623588 scopus 로고
    • Increased incidence of Glanzmann's thrombasthenia in Jordan as compared with Scandinavia
    • Awidi AS: Increased incidence of Glanzmann's thrombasthenia in Jordan as compared with Scandinavia. Scand J Haematol 1983; 30: 218-222. (Pubitemid 13112759)
    • (1983) Scandinavian Journal of Haematology , vol.30 , Issue.3 , pp. 218-222
    • Awidi, A.S.1
  • 5
    • 0033083369 scopus 로고    scopus 로고
    • One founder/one gene hypothesis in a new expanding population: Saguenay (Quebec, Canada)
    • Heyer E: One founder/one gene hypothesis in a new expanding population: saguenay (Quebec, Canada). Hum Biol 1999; 71: 99-109. (Pubitemid 29077805)
    • (1999) Human Biology , vol.71 , Issue.1 , pp. 99-109
    • Heyer, E.1
  • 6
    • 0015207591 scopus 로고
    • Glanzmann-Naegeli thrombasthenia study of a strongly endogamous ethnic group
    • Paris
    • Levy JM, Mayer G, Sacrez R, Ruff R, Francfort JJ, Rodier L: Glanzmann-Naegeli thrombasthenia. Study of a strongly endogamous ethnic group. Ann Pediatr (Paris) 1971; 18: 129-137.
    • (1971) Ann. Pediatr. , vol.18 , pp. 129-137
    • Levy, J.M.1    Mayer, G.2    Sacrez, R.3    Ruff, R.4    Francfort, J.J.5    Rodier, L.6
  • 10
    • 0029154482 scopus 로고
    • The molecular genetic basis of Glanzmanns thrombasthenia in a gypsy population in France: Identification of a new mutation on the alpha IIb gene
    • Schlegel N, Gayet O, Morel-Kopp MC et al: The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene. Blood 1995; 86: 977-982.
    • (1995) Blood , vol.86 , pp. 977-982
    • Schlegel, N.1    Gayet, O.2    Morel-Kopp, M.C.3
  • 11
    • 0029161950 scopus 로고
    • Detection by PCR and HphI restriction analysis of a splice site mutation at the 5 end of intron 15 of the platelet GPIIb alphaIIb integrin gene responsible for Glanzmanns thrombasthenia type I in Gypsies originating from the Strasbourg area
    • de la Salle C, Schwartz A, Baas MJ, Lanza F, Cazenave JP: Detection by PCR and HphI restriction analysis of a splice site mutation at the 5' end of intron 15 of the platelet GPIIb (alphaIIb integrin) gene responsible for Glanzmann's thrombasthenia type I in Gypsies originating from the Strasbourg area. Thromb Haemost 1995; 74: 990-991.
    • (1995) Thromb. Haemost. , vol.74 , pp. 990-991
    • De La Salle, C.1    Schwartz, A.2    Baas, M.J.3    Lanza, F.4    Cazenave, J.P.5
  • 13
    • 0035662468 scopus 로고    scopus 로고
    • Description of 10 new mutations in platelet glycoprotein IIb (IIb) and glycoprotein IIIa (3) genes
    • DOI 10.1080/095371001317126383
    • Vinciguerra C, Bordet JC, Beaune G, Grenier C, Dechavanne M, Negrier C: Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes. Platelets 2001; 12: 486-495. (Pubitemid 34014278)
    • (2001) Platelets , vol.12 , Issue.8 , pp. 486-495
    • Vinciguerra, C.1    Bordet, J.C.2    Beaune, G.3    Grenier, C.4    Dechavanne, M.5    Negrier, C.6
  • 14
    • 0642372604 scopus 로고    scopus 로고
    • Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the alphaIIb gene to be strongly linked to the HPA-1b polymorphism in beta3
    • Jacquelin B, Tuleja E, Kunicki TJ, Nurden P, Nurden AT: Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the alphaIIb gene to be strongly linked to the HPA-1b polymorphism in beta3. J Thromb Haemost 2003; 1: 573-575.
    • (2003) J. Thromb. Haemost. , vol.1 , pp. 573-575
    • Jacquelin, B.1    Tuleja, E.2    Kunicki, T.J.3    Nurden, P.4    Nurden, A.T.5
  • 15
    • 4444242328 scopus 로고    scopus 로고
    • Rebuttal: The French Gypsy mutation does not give rise to a particularly mild form of Glazmanns thrombasthenia
    • Nurden AT, Nurden P: Rebuttal: the French Gypsy mutation does not give rise to a particularly mild form of Glazmann's thrombasthenia. J Thromb Haemost 2003; 1: 2459.
    • (2003) J. Thromb. Haemost. , vol.1 , pp. 2459
    • Nurden, A.T.1    Nurden, P.2
  • 16
    • 0019508624 scopus 로고
    • Inheritance of the human platelet alloantigen, Pl(A1), in type I Glanzmann's thrombasthenia
    • Kunicki TJ, Pidard D, Cazenave JP, Nurden AT, Caen JP: Inheritance of the human platelet alloantigen, PlA1, in type I Glanzmann's thrombasthenia. J Clin Invest 1981; 67: 717-724. (Pubitemid 11142363)
    • (1981) Journal of Clinical Investigation , vol.67 , Issue.3 , pp. 717-724
    • Kunicki, T.J.1    Pidard, D.2    Cazenave, J.-P.3
  • 17
    • 78149488259 scopus 로고    scopus 로고
    • Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high resolution melting analysis
    • Fiore M, Nurden AT, Vinciguerra C, Nurden P, Pillois X: Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high resolution melting analysis. Thromb Haemost 2010; 104: 1076-1077.
    • (2010) Thromb. Haemost. , vol.104 , pp. 1076-1077
    • Fiore, M.1    Nurden, A.T.2    Vinciguerra, C.3    Nurden, P.4    Pillois, X.5
  • 19
    • 0346991739 scopus 로고    scopus 로고
    • Detecting Population Growth, Selection and Inherited Fertility from Haplotypic Data in Humans
    • Austerlitz F, Kalaydjieva L, Heyer E: Detecting population growth, selection and inherited fertility from haplotypic data in humans. Genetics 2003; 165: 1579-1586. (Pubitemid 38020271)
    • (2003) Genetics , vol.165 , Issue.3 , pp. 1579-1586
    • Austerlitz, F.1    Kalaydjieva, L.2    Heyer, E.3
  • 20
    • 84855914810 scopus 로고    scopus 로고
    • PHASEv2.1. www.stat.washington.edu/stephens/software.html .
    • PHASEv2.1.
  • 21
    • 79959503826 scopus 로고    scopus 로고
    • The international hapmap project
    • International HapMap Consortium
    • International HapMap Consortium: The International HapMap Project. Nature 2003; 426: 789-796.
    • (2003) Nature , vol.426 , pp. 789-796
  • 22
  • 23
    • 36949001794 scopus 로고    scopus 로고
    • Disulfide bond disruption by a 3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active IIb3
    • DOI 10.1160/TH07-04-0248
    • Mor-Cohen R, Rosenberg N, Peretz H et al: Disulfide bond disruption by a beta3- Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active alphaIIbbeta 3. Thromb Haemost 2007; 98: 1257-1265. (Pubitemid 350239098)
    • (2007) Thrombosis and Haemostasis , vol.98 , Issue.6 , pp. 1257-1265
    • Mor-Cohen, R.1    Rosenberg, N.2    Peretz, H.3    Landau, M.4    Coller, B.S.5    Awidi, A.6    Seligsohn, U.7
  • 25
    • 0003618754 scopus 로고
    • Blackwell Publishers Oxford
    • Fraser A: The Gypsies. Blackwell Publishers: Oxford, 1992.
    • (1992) The Gypsies.
    • Fraser, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.