Allele Frequencies of CD31 Polymorphisms in Japanese Subjects (28 Families, 112 Haploides)
Tentative Name of Allele . | Substituted Amino Acids in Each Codon . | No. . | AF* . | Δ† . | |||
---|---|---|---|---|---|---|---|
Exon 3 Codons . | Exon 8 Codon . | Exon 12 Codon . | |||||
80 . | 125 . | 563 . | 670 . | ||||
A | Val | Leu | Ser | Arg | 46 | 0.411 | 0.133 |
B | Val | Val | Asn | Gly | 39 | 0.348 | 0.133 |
C | Val | Val | Ser | Arg | 21 | 0.188 | −0.133 |
D | Val | Leu | Asn | Gly | 6 | 0.054 | −0.133 |
E | Met | Val | Asn | Gly | 0 | 0 |
Tentative Name of Allele . | Substituted Amino Acids in Each Codon . | No. . | AF* . | Δ† . | |||
---|---|---|---|---|---|---|---|
Exon 3 Codons . | Exon 8 Codon . | Exon 12 Codon . | |||||
80 . | 125 . | 563 . | 670 . | ||||
A | Val | Leu | Ser | Arg | 46 | 0.411 | 0.133 |
B | Val | Val | Asn | Gly | 39 | 0.348 | 0.133 |
C | Val | Val | Ser | Arg | 21 | 0.188 | −0.133 |
D | Val | Leu | Asn | Gly | 6 | 0.054 | −0.133 |
E | Met | Val | Asn | Gly | 0 | 0 |
Amino acid substitutions of the five CD31 alleles are shown. Only those alleles observed have been named tentatively in the present study. The allele CD31 E was found in population study, but not in family study.
Allele frequency, calculated by “direct counting method.”
Delta value, representing linkage disequilibrium, calculated by formula: Δ(XiYj) = AF(XiYj) − xiyj. Suppose that there are two different mutation domains, codon 80/125 and codon 563/670, and let Xi and Yj. In the above equation, AF represents the allele frequency, and xiand yj represent the mutated amino acid frequencies of Xi and Yj, respectively.