Table 4

Allele frequency of sequence variants in normal controls and in patients with HAE

Sequence variationAllele frequency (donors, n = 102)Allele frequency (patients, n = 25)
The frequency of the Val458Met and Thr285Ala amino acid substitutions was determined by NlaIII and CviJI digestion respectively.
The t566c nucleotide substitution was determined by AvaII digests. The validity of the digests was confirmed by sequence analysis.
The allele frequency of a14011g in a control population is taken from.10
*Values from n=40 normal controls.