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Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency

Hallam, P. J., Millar, D. S., Krawczak, M, Kakkar, W and Cooper, David Neil 1995. Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency. Journal of Medical Genetics 32 (7) , pp. 543-545. 10.1136/jmg.32.7.543

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Official URL: http://jmg.bmj.com/

Abstract

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

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
R Medicine > RZ Other systems of medicine
Publisher: BMJ Journals
ISSN: 0022-2593
Last Modified: 04 Jun 2017 06:32
URI: http://orca.cf.ac.uk/id/eprint/61703

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