Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy

被引:31
作者
Mogensen, J
Andersen, PS
Steffensen, U
Christiansen, M
Egeblad, H
Gregersen, N
Borglum, AD [1 ]
机构
[1] Skejby Univ Hosp, Dept Cardiol, DK-8200 Aarhus N, Denmark
[2] Skejby Univ Hosp, Res Unit Mol Med, DK-8200 Aarhus N, Denmark
[3] Statens Serum Inst, Dept Clin Biochem, DK-2300 Copenhagen S, Denmark
[4] Aarhus Univ, Inst Human Genet, DK-8000 Aarhus C, Denmark
关键词
D O I
10.1136/jmg.38.3.193
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:193 / 197
页数:5
相关论文
共 38 条
[1]   Familial hypertrophic cardiomyopathy from mutations to functional defects [J].
Bonne, G ;
Carrier, L ;
Richard, P ;
Hainque, B ;
Schwartz, K .
CIRCULATION RESEARCH, 1998, 83 (06) :580-593
[2]   CARDIAC MYOSIN BINDING PROTEIN-C GENE SPLICE ACCEPTOR SITE MUTATION IS ASSOCIATED WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY [J].
BONNE, G ;
CARRIER, L ;
BERCOVICI, J ;
CRUAUD, C ;
RICHARD, P ;
HAINQUE, B ;
GAUTEL, M ;
LABEIT, S ;
JAMES, M ;
BECKMANN, J ;
WEISSENBACH, J ;
VOSBERG, HP ;
FISZMAN, M ;
KOMAJDA, M ;
SCHWARTZ, K .
NATURE GENETICS, 1995, 11 (04) :438-440
[3]  
Bottinelli R, 1998, CIRC RES, V82, P106
[4]   Comprehensive human genetic maps: Individual and sex-specific variation in recombination [J].
Broman, KW ;
Murray, JC ;
Sheffield, VC ;
White, RL ;
Weber, JL .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (03) :861-869
[5]   Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain [J].
Bundgaard, H ;
Havndrup, O ;
Andersen, PS ;
Larsen, LA ;
Brandt, NJ ;
Vuust, J ;
Kjeldsen, K ;
Christiansen, M .
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 1999, 31 (04) :745-750
[6]   MAPPING OF A NOVEL GENE FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TO CHROMOSOME-11 [J].
CARRIER, L ;
HENGSTENBERG, C ;
BECKMANN, JS ;
GUICHENEY, P ;
DUFOUR, C ;
BERCOVICI, J ;
DAUSSE, E ;
BEREBBIBERTRAND, I ;
WISNEWSKY, C ;
PULVENIS, D ;
FETLER, L ;
VIGNAL, A ;
WEISSENBACH, J ;
HILLAIRE, D ;
FEINGOLD, J ;
BOUHOUR, JB ;
HAGEGE, A ;
DESNOS, M ;
ISNARD, R ;
DUBOURG, O ;
KOMAJDA, M ;
SCHWARTZ, K .
NATURE GENETICS, 1993, 4 (03) :311-313
[7]   Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy [J].
Carrier, L ;
Bonne, G ;
Bahrend, E ;
Yu, B ;
Richard, P ;
Niel, F ;
Hainque, B ;
Cruaud, C ;
Gary, F ;
Labeit, S ;
Bouhour, JB ;
Dubourg, O ;
Desnos, M ;
Hagege, AA ;
Trent, RJ ;
Komajda, M ;
Fiszman, M ;
Schwartz, K .
CIRCULATION RESEARCH, 1997, 80 (03) :427-434
[8]  
*CEPH, 1999, CEPH DAT VERS V8 1
[9]   Clinical features of hypertrophic cardiomyopathy caused by mutation of a ''hot spot'' in the alpha-tropomyosin gene [J].
Coviello, DA ;
Maron, BJ ;
Spirito, P ;
Watkins, H ;
Vosberg, HP ;
Thierfelder, L ;
Schoen, FJ ;
Seidman, JG ;
Seidman, CE .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1997, 29 (03) :635-640
[10]   A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].
Dib, C ;
Faure, S ;
Fizames, C ;
Samson, D ;
Drouot, N ;
Vignal, A ;
Millasseau, P ;
Marc, S ;
Hazan, J ;
Seboun, E ;
Lathrop, M ;
Gyapay, G ;
Morissette, J ;
Weissenbach, J .
NATURE, 1996, 380 (6570) :152-154