Human Red Cell Esterase D Polymorphism in Denmark, Its Use in Paternity Cases and the Description of a New Phenotype

Abstract

Red cell esterase D (EsD) phenotypes were determined in a Danish population sample of 3,116 unrelated adults by starch-gel electrophoresis. A new phenotype was discovered, which appeared to be determined by the EsD¹ allele and a new allele EsD^cP^h. The gene frequencies observed were EsD¹ = 0.9007, EsD² = 0.0992, EsD^CPh = 0.0001. Investigation of 1,111 mother-child pairs and 59 families with 157 offspring added further support to the genetic model of two common alleles at an autosomal locus. The applicability of the EsD polymorphism to paternity testing was investigated on 960 cases of disputed paternity. An estimate of the EsD null allele frequency (0.001) in European populations was made on the basis of observations made on 5,864 mother/ child combinations and 762 matings with 1,882 offspring. The influence of this allele on the reliability of exclusions of paternity was determined.

EsD*5 gene frequency in Tuscany (Italy)

“…Additional rare alleles have subsequently been reported: EsD*3 (Bender and Frank 1974), EsD*4 (Berg et al 1976), EsD*6 (Radam et al 1980), EsD*7 (Siege and Schwehn 1983), EsD*Cph (Dissing and Heriksen 1984), EsD*D (Henke and Basler 1984), EsD*B (Gradl et al 1985). Nishigaki and Itoh (1984) found EsD*7 to be polymorphic in Japan, but this allele could be not identical with the independently discovered European EsD*7.…”

Polymorphism of EsD by isoelectric focusing: Description of the new allele EsD*Kofu and phenotyping in bloodstains

“…Subsequent studies revealed the existence of a number of rare alleles in various populations: EsD*3 (Bender and Frank 1974), EsD*4 (Berg et al 1976), EsD*Mamelodi (Hitzeroth et al 1976), EsD*0 (Marks et al 1977), EsD*3Negrito (Omoto et al 1978), EsD*3-1 (Suzuki et al 1978), EsD*5 (Martin 1979), EsD*6 (Radam et al 1980), EsD*7 (Siege and Schwehn 1983), EsD*Copenhagen (Dissing and Eriksen 1984), EsD*Diisseldorf (Henke and Basler 1984), and EsD*Yamaguchi (Yuasa et al 1985b). Using isoelectric focusing, the EsD*5 allele was later shown to be relatively common in white people, while the EsD*7 allele was reported to occur with appreciable frequency in Japanese by Nishigaki and Itoh (1984).…”