Evidence for a single origin of factor V Leiden

被引:57
作者
Cox, MJ [1 ]
Rees, DC [1 ]
Martinson, JJ [1 ]
Clegg, JB [1 ]
机构
[1] JOHN RADCLIFFE HOSP,INST MOLEC IMMUNOL,MRC,MOLEC HAEMATOL UNIT,OXFORD OX3 9DU,ENGLAND
关键词
factor V Leiden; thrombosis; haplotype; activated protein C resistance; origin;
D O I
10.1046/j.1365-2141.1996.4961037.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Factor V Leiden is the most common hereditary blood clotting disorder so far identified, with an allele frequency of 4%. The low prevalence of the mutation outside of Europe suggests it occurred as a single event in the European founding population. In this study four polymorphisms have been identified defining different haplotypes in the exon 13 region of the factor V gene. One of these polymorphisms predicts a novel amino acid change, threonine to serine, in the B-domain of factor V. Statistical evidence for a single origin of factor V Leiden is provided through the association of the mutation with a single exon 13 haplotype.
引用
收藏
页码:1022 / 1025
页数:4
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