POPULATION DIFFERENCES IN THE FREQUENCY OF THE FACTOR-V LEIDEN VARIANT AMONG PEOPLE WITH CLINICALLY SYMPTOMATIC PROTEIN-C DEFICIENCY

被引:32
作者
HALLAM, PJ
MILLAR, DS
KRAWCZAK, M
KAKKAR, VV
COOPER, DN
机构
[1] THROMBOSIS RES INST,CHARTER MOLEC GENET LAB,LONDON SW3 6LR,ENGLAND
[2] HANNOVER MED SCH,INST HUMAN GENET,D-30623 HANNOVER,GERMANY
关键词
D O I
10.1136/jmg.32.7.543
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The factor V Leiden variant, responsible for the phenomenon of activated protein C resistance, was found to be less frequent among British (0.06) and Swedish/Danish (0.15) protein C deficiency patients than previously reported in a Dutch study (0.19). In the Swedish population, a significantly increased frequency of the factor V Leiden allele was apparent in protein C deficiency patients as compared to healthy controls. However, this was not found in the British population. Coinheritance of the factor V Leiden variant is therefore unlikely to be the sole determinant of whether a person with protein C deficiency will come to clinical attention. Nevertheless, when patient data were analysed by type of protein C deficiency, it was noted that the frequency of the factor V Leiden variant was 2.8-fold higher in type II patients compared to type I patients. A possible explanation of this disparity is discussed.
引用
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页码:543 / 545
页数:3
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