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Volumn 11, Issue 4, 2013, Pages 724-730

Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews

Author keywords

Ashkenazi Jews; Factor XI; Factor XI deficiency; Factor XI mutations; Polymorphisms

Indexed keywords

ALANINE; BLOOD CLOTTING FACTOR 11; GLYCINE;

EID: 84876170115     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/jth.12137     Document Type: Article
Times cited : (8)

References (30)
  • 1
    • 77049137927 scopus 로고
    • New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor
    • Rosenthal RL, Dreskin OH, Rosenthal N. New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor. Proc Soc Exp Biol Med 1953; 82: 171-4.
    • (1953) Proc Soc Exp Biol Med , vol.82 , pp. 171-174
    • Rosenthal, R.L.1    Dreskin, O.H.2    Rosenthal, N.3
  • 2
    • 0018139784 scopus 로고
    • High gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews
    • Seligsohn U. High gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews. Blood 1978; 51: 1223-8.
    • (1978) Blood , vol.51 , pp. 1223-1228
    • Seligsohn, U.1
  • 3
    • 0034058539 scopus 로고    scopus 로고
    • Molecular basis of mendelian disorders among Jews
    • Zlotogora J, Bach G, Munnich A. Molecular basis of mendelian disorders among Jews. Mol Genet Metab 2000; 69: 169-80.
    • (2000) Mol Genet Metab , vol.69 , pp. 169-180
    • Zlotogora, J.1    Bach, G.2    Munnich, A.3
  • 4
    • 0023515093 scopus 로고
    • Organization of the gene for human factor XI
    • Asakai R, Davie EW, Chung DW. Organization of the gene for human factor XI. Biochemistry 1987; 26: 7221-8.
    • (1987) Biochemistry , vol.26 , pp. 7221-7228
    • Asakai, R.1    Davie, E.W.2    Chung, D.W.3
  • 5
    • 0012992989 scopus 로고
    • Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations
    • Asakai R, Chung DW, Ratnoff OD, Davie EW. Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc Natl Acad Sci USA 1989; 86: 7667-71.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 7667-7671
    • Asakai, R.1    Chung, D.W.2    Ratnoff, O.D.3    Davie, E.W.4
  • 7
    • 0028899613 scopus 로고
    • 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
    • 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 1995; 85: 429-32.
    • (1995) Blood , vol.85 , pp. 429-432
    • Shpilberg, O.1    Peretz, H.2    Zivelin, A.3    Yatuv, R.4    Chetrit, A.5    Kulka, T.6    Stern, C.7    Weiss, E.8    Seligsohn, U.9
  • 8
    • 0030755267 scopus 로고    scopus 로고
    • The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin
    • Peretz H, Mulai A, Usher S, Zivelin A, Segal A, Weisman Z, Mittelman M, Lupo H, Lanir N, Brenner B, Shpilberg O, Seligsohn U. The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin. Blood 1997; 90: 2654-9.
    • (1997) Blood , vol.90 , pp. 2654-2659
    • Peretz, H.1    Mulai, A.2    Usher, S.3    Zivelin, A.4    Segal, A.5    Weisman, Z.6    Mittelman, M.7    Lupo, H.8    Lanir, N.9    Brenner, B.10    Shpilberg, O.11    Seligsohn, U.12
  • 9
    • 0033358085 scopus 로고    scopus 로고
    • Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews
    • Goldstein DB, Reich DE, Bradman N, Usher S, Seligsohn U, Peretz H. Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews. Am J Hum Genet 1999; 64: 1071-5.
    • (1999) Am J Hum Genet , vol.64 , pp. 1071-1075
    • Goldstein, D.B.1    Reich, D.E.2    Bradman, N.3    Usher, S.4    Seligsohn, U.5    Peretz, H.6
  • 11
    • 0034973984 scopus 로고    scopus 로고
    • High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence
    • Rannala B, Reeve JP. High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence. Am J Hum Genet 2001; 69: 159-78.
    • (2001) Am J Hum Genet , vol.69 , pp. 159-178
    • Rannala, B.1    Reeve, J.P.2
  • 12
    • 0036300177 scopus 로고    scopus 로고
    • DMLE+: Bayesian linkage disequilibrium gene mapping
    • Reeve JP, Rannala B. DMLE+: Bayesian linkage disequilibrium gene mapping. Bioinformatics 2002; 18: 894-5.
    • (2002) Bioinformatics , vol.18 , pp. 894-895
    • Reeve, J.P.1    Rannala, B.2
  • 13
    • 42449097146 scopus 로고    scopus 로고
    • The Avraham Harman Institute of Contemporary Jewry, The Hebrew University Press, Jerusalem
    • Dellapergola S, Even J. Papers in Jewish Demography 1997. The Avraham Harman Institute of Contemporary Jewry, The Hebrew University Press, Jerusalem. 2001.
    • (2001) Papers in Jewish Demography 1997
    • Dellapergola, S.1    Even, J.2
  • 14
    • 3242694118 scopus 로고    scopus 로고
    • A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases
    • Slatkin M. A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am J Hum Genet 2004; 75: 282-93.
    • (2004) Am J Hum Genet , vol.75 , pp. 282-293
    • Slatkin, M.1
  • 16
    • 33747159859 scopus 로고    scopus 로고
    • Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy
    • Salomon O, Steinberg DM, Seligshon U. Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy. Haemophilia 2006; 12: 490-3.
    • (2006) Haemophilia , vol.12 , pp. 490-493
    • Salomon, O.1    Steinberg, D.M.2    Seligshon, U.3
  • 20
    • 0038015838 scopus 로고    scopus 로고
    • Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography
    • Mitchell M, Harrington P, Cutler J, Rangarajan S, Savidge G, Alhaq A. Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography. Br J Haematol 2003; 121: 500-2.
    • (2003) Br J Haematol , vol.121 , pp. 500-502
    • Mitchell, M.1    Harrington, P.2    Cutler, J.3    Rangarajan, S.4    Savidge, G.5    Alhaq, A.6
  • 23
    • 43449124745 scopus 로고    scopus 로고
    • Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians
    • Zadra G, Asselta R, Tenchini ML, Castaman G, Seligsohn U, Mannucci PM, Duga S. Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians. Haematologica 2008; 93: 715-21.
    • (2008) Haematologica , vol.93 , pp. 715-721
    • Zadra, G.1    Asselta, R.2    Tenchini, M.L.3    Castaman, G.4    Seligsohn, U.5    Mannucci, P.M.6    Duga, S.7
  • 24
    • 0036530032 scopus 로고    scopus 로고
    • Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene
    • Zivelin A, Bauduer F, Ducout L, Peretz H, Rosenberg N, Yatuv R, Seligsohn U. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood 2002; 99: 2448-54.
    • (2002) Blood , vol.99 , pp. 2448-2454
    • Zivelin, A.1    Bauduer, F.2    Ducout, L.3    Peretz, H.4    Rosenberg, N.5    Yatuv, R.6    Seligsohn, U.7
  • 25
    • 4444331157 scopus 로고    scopus 로고
    • Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation
    • Quelin F, Trossaert M, Sigaud M, Mazancourt PD, Fressinaud E. Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. J Thromb Haemost 2004; 2: 71-6.
    • (2004) J Thromb Haemost , vol.2 , pp. 71-76
    • Quelin, F.1    Trossaert, M.2    Sigaud, M.3    Mazancourt, P.D.4    Fressinaud, E.5
  • 26
    • 84855326551 scopus 로고    scopus 로고
    • Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France)
    • Guéguen P, Chauvin A, Quémener-Redon S, Pan-Petesch B, Férec C, Abgrall JF, Le Maréchal C. Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France). Thromb Haemost 2012; 107: 44-50.
    • (2012) Thromb Haemost , vol.107 , pp. 44-50
    • Guéguen, P.1    Chauvin, A.2    Quémener-Redon, S.3    Pan-Petesch, B.4    Férec, C.5    Abgrall, J.F.6    Le Maréchal, C.7
  • 30
    • 0037385394 scopus 로고    scopus 로고
    • Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection
    • Risch N, Tang H, Katzenstein H, Ekstein J. Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. Am J Hum Genet 2003; 72: 812-22.
    • (2003) Am J Hum Genet , vol.72 , pp. 812-822
    • Risch, N.1    Tang, H.2    Katzenstein, H.3    Ekstein, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.