Biomedical subjects
Publications and source records attributed to F H Herrmann.
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Preliminary epidemiological data showed a high but varying prevalence of factor V Leiden mutation in various European populations. To analyze population differences statistically and generate reliable evaluation criteria for morbidity estimates, large numbers of unselected probands from different populations have to be tested. A convenient, efficient, reliable and cost efficient method for large-scale screening of factor V Leiden mutation has been developed using capillary blood samples soaked onto filter paper cards for the detection of mutations by heteroduplex analysis. Screening 1,628 alleles of a north-eastern German population by this procedure revealed an allele frequency of 3.56% (carrier rate 7.12%) which is significantly higher than those published for Italy and the Netherlands. Differences in allele frequencies compared to other European populations could statistically not be proved based on the small size of the published samples.
A panel of 27 families at risk for haemophilia A was studied by RFLP analysis using the anonymous probe St14.1 (DXS52), a cDNA probe spanning the exons 16 to 19, and a genomic fragment of intron 22. In two patients with severe haemophilia A, who did not form inhibitors, abnormal RFLP patterns were found, that can be interpreted as partial deletions in exons 17 to 19, and intron 22, respectively. In a case with moderate haemophilia A a further partial deletion in intron 22 was found. The significance of the deletions detected as markers for pedigree analysis and prevention of haemophilia A is demonstrated.