THE GENE FOR ARRHYTHMOGENIC RIGHT-VENTRICULAR CARDIOMYOPATHY MAPS TO CHROMOSOME 14Q23-Q24

被引：241

作者：

RAMPAZZO, A

NAVA, A

DANIELI, GA

BUJA, G

DALIENTO, L

FASOLI, G

SCOGNAMIGLIO, R

CORRADO, D

THIENE, G

机构：

[1] UNIV PADUA,DEPT BIOL,I-35121 PADUA,ITALY

[2] UNIV PADUA,DEPT CARDIOL,I-35121 PADUA,ITALY

[3] UNIV PADUA,DEPT PATHOL,I-35121 PADUA,ITALY

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 06期

关键词：

D O I：

10.1093/hmg/3.6.959

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD) is a dominantly inherited disorder progressively affecting the myocardium and it is one of the major causes of juvenile sudden death. The chromosomal localization of the disease gene is reported here for the first time. A maximum lod score of 6.04 was obtained at theta = O for linkage with the polymorphic marker D14S42 (14q23-q24) in two families, one of which has 82 subjects (19 affected) in four generations. The pre-symptomatic identification of ARVD carriers by linkage analysis in the affected families strongly increases the possibility of prevention of life-threatening complications.

引用

页码：959 / 962

页数：4

共 24 条

[1] ENDOMYOCARDIAL BIOPSY IN RIGHT-VENTRICULAR CARDIOMYOPATHY [J].

ANGELINI, A ;

THIENE, G ;

BOFFA, GM ;

CALLIARIS, I ;

DALIENTO, L ;

VALENTE, M ;

CHIOIN, R ;

NAVA, A ;

VOLTA, SD .

INTERNATIONAL JOURNAL OF CARDIOLOGY, 1993, 40 (03) :273-282

[2] 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

[3] SUDDEN-DEATH IN YOUNG COMPETITIVE ATHLETES - CLINICOPATHOLOGICAL CORRELATIONS IN 22 CASES [J].

CORRADO, D ;

THIENE, G ;

NAVA, A ;

ROSSI, L ;

PENNELLI, N .

AMERICAN JOURNAL OF MEDICINE, 1990, 89 (05) :588-596

[4] ASSIGNMENT OF THE GENE FOR BETA-SPECTRIN (SPTB) TO CHROMOSOME-14Q23-]Q24.2 BY INSITU HYBRIDIZATION [J].

FUKUSHIMA, Y ;

BYERS, MG ;

WATKINS, PC ;

WINKELMANN, JC ;

FORGET, BG ;

SHOWS, TB .

CYTOGENETICS AND CELL GENETICS, 1990, 53 (04) :232-233

[5]

HODGE SE, 1992, AM J HUM GENET, V50, P1053

[6]

JORDAN SA, 1990, NUCLEIC ACIDS RES, V19, P1171

[7]

KEATING M, 1991, AM J HUM GENET, V49, P1335

[8] WHAT DOES DYSTROPHIN DO IN NORMAL MUSCLE [J].

LANSMAN, JB ;

FRANCO, A .

JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY, 1991, 12 (05) :409-411

[9] FAMILIAL FORM OF ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA [J].

LAURENT, M ;

DESCAVES, C ;

BIRON, Y ;

DEPLACE, C ;

ALMANGE, C ;

DAUBERT, JC .

AMERICAN HEART JOURNAL, 1987, 113 (03) :827-829

[10] RIGHT VENTRICULAR DYSPLASIA - A REPORT OF 24 ADULT CASES [J].

MARCUS, FI ;

FONTAINE, GH ;

GUIRAUDON, G ;

FRANK, R ;

LAURENCEAU, JL ;

MALERGUE, C ;

GROSGOGEAT, Y .

CIRCULATION, 1982, 65 (02) :384-398

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