Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C

被引：16

作者：

Braun, A ^{[1
]}

Muller, B ^{[1
]}

Rosche, AA ^{[1
]}

机构：

[1] UNIV MUNICH,DEPT PEDIAT GENET,KINDERPOLIKLIN,MUNICH,GERMANY

来源：

HUMAN GENETICS | 1996年 / 97卷 / 02期

关键词：

D O I：

10.1007/BF02265279

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The mutation G1691A (R506Q) in the human factor V gene is associated with the resistance to activated protein C (APC) that represents a major risk of development of venous thrombosis. A population study of 180 unrelated individuals from south Germany was performed. Examination of the allelic frequencies revealed a high prevalence of this disease-related mutation (Q506, FV Leiden). The heterozygosity rate was 7.8% with a confidence interval between 4% and 11%.

引用

页码：263 / 264

页数：2

共 8 条

[1] MUTATION IN BLOOD-COAGULATION FACTOR-V ASSOCIATED WITH RESISTANCE TO ACTIVATED PROTEIN-C [J].

BERTINA, RM ;

KOELEMAN, BPC ;

KOSTER, T ;

ROSENDAAL, FR ;

DIRVEN, RJ ;

DERONDE, H ;

VANDERVELDEN, PA ;

REITSMA, PH .

NATURE, 1994, 369 (6475) :64-67

[2] PHYSIOLOGICAL ANTICOAGULATION - RESISTANCE TO ACTIVATED PROTEIN-C AND VENOUS THROMBOEMBOLISM [J].

DAHLBACK, B .

JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (03) :923-927

[3]

GRIFFIN JH, 1993, BLOOD, V82, P1989

[4] VENOUS THROMBOSIS DUE TO POOR ANTICOAGULANT RESPONSE TO ACTIVATED PROTEIN-C - LEIDEN THROMBOPHILIA STUDY [J].

KOSTER, T ;

ROSENDAAL, FR ;

DERONDE, H ;

BRIET, E ;

VANDENBROUCKE, JP ;

BERTINA, RM .

LANCET, 1993, 342 (8886-7) :1503-1506

[5] A TEST BASED ON THE EXACT PROBABILITY-DISTRIBUTION OF THE CHI-2 STATISTIC - INCORPORATION INTO THE MASC METHOD [J].

MULLER, B ;

CLERGETDARPOUX, F .

ANNALS OF HUMAN GENETICS, 1991, 55 :69-75

[6] MUTATION IN THE GENE CODING FOR COAGULATION-FACTOR-V AND THE RISK OF MYOCARDIAL-INFARCTION, STROKE, AND VENOUS THROMBOSIS IN APPARENTLY HEALTHY-MEN [J].

RIDKER, PM ;

HENNEKENS, CH ;

LINDPAINTER, K ;

STAMPFER, MJ ;

EISENBERG, PR ;

MILETICH, JP .

NEW ENGLAND JOURNAL OF MEDICINE, 1995, 332 (14) :912-917

[7] RESISTANCE TO ACTIVATED PROTEIN-C AS A BASIS FOR VENOUS THROMBOSIS [J].

SVENSSON, PJ ;

DAHLBACK, B .

NEW ENGLAND JOURNAL OF MEDICINE, 1994, 330 (08) :517-522

[8] IDENTIFICATION OF THE SAME FACTOR-V GENE MUTATION IN 47 OUT OF 50 THROMBOSIS-PRONE FAMILIES WITH INHERITED RESISTANCE TO ACTIVATED PROTEIN-C [J].

ZOLLER, B ;

SVENSSON, PJ ;

HE, XH ;

DAHLBACK, B .

JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (06) :2521-2524

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