LARGE-SCALE SCREENING FOR FACTOR-V LEIDEN MUTATION IN A NORTH-EASTERNGERMAN POPULATION

Preliminary epidemiological data showed a high but varying prevalence of factor Y Leiden mutation in various European populations. To analyz e population differences statistically and generate reliable evaluatio n criteria for morbidity estimates, large numbers of unselected proban ds from different populations have to be tested. A convenient, efficie nt, reliable and cost efficient method for large-scale screening of fa ctor V Leiden mutation has been developed using capillary blood sample s soaked onto filter paper cards for the detection of mutations by het eroduplex analysis. Screening 1,628 alleles of a north-eastern German population by this procedure revealed an allele frequency of 3.56% (ca rrier rate 7.12%) which is significantly higher than those published f or Italy and the Netherlands. Differences in allele frequencies compar ed to other European populations could statistically not be proved bas ed on the small size of the published samples.