Esterase D: Some Population and Formal Genetical Data

Rittner, Ch.; Müller, Geraldo

doi:10.1159/000152720

Cited by 17 publications

(5 citation statements)

References 5 publications

(14 reference statements)

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“…The low frequencies were observed in African populations and among Europeans living north of the Mediterranean region [2,3,8,13,15,23,24]. The highest EsD2 gene frequencies were found in Lapland, Japan and South Asia [4,8,9,14,24], In our investigation we have found that Ashkenazi and North African Jews present frequencies similar to those of European populations.…”

Section: Discussionsupporting

confidence: 55%

“…[14] In the present screening an additional sample with the rare E sD 3 allele was discovered in a Jewish Greek family. This phenotype has been described so far in 3 families: 2 from Germany and l from Italy [1,2,15], In a recent report by H arris el al. [7] it has been calculated that for any single locus one may expect that between 1 and 2 individuals per thousand will be heterozygotes for a rare allele determining an electrophoretic variant.…”

Section: Discussionmentioning

confidence: 69%

“…[8] demonstrated a genetically determined polymorphism of esterase D. Two allelic genes EsD' and EsD2, at a single autosomal locus, determine three common phenotypes of this poly morphic system (phenotypes 1-1, 2-1, 2-2). An additional rare variant (phe notype 3-1) has been recently described [1,2,15]. Up to now, several popu lation samples have been investigated and the results demonstrated significant differences in gene frequencies, suggesting that this system may be a useful genetic marker in human population studies [8,9,24], The Jewish population now in Israel represents many communities who have lived for a long time in diaspora in the Middle and Near East, Europe and North Africa.…”

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confidence: 99%

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Esterase D Polymorphism in Several Population Groups in Israel

1977

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The genetic polymorphism of red blood cells esterase D (EsD) has been investigated in 9 population groups in Israel: Ashkenazi Jews, non-Ashkenazi Jews from North Africa, Iran, Turkey, Egypt, Balkan, Iraq, Yemen as well as Arabs living in Israel. The distribution of EsD¹and EsD²genes among the 9 communities was not homogenous (χ²= 42.3; d.f. = 8; p < 0.0005). The Ashkenazi and North African Jews had significantly lower frequencies of EsD²(0.100 and 0.102 respectively) than did Yemenite Jews and Arabs (0.212 and 0.206 respectively). The other communities investigated showed intermediate values. A Jewish family from Greece carrying the rare allele EsD³ has been detected.

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Section: Discussionsupporting

confidence: 55%

Section: Discussionmentioning

confidence: 69%

mentioning

confidence: 99%

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Esterase D Polymorphism in Several Population Groups in Israel

1977

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“…Rare variants, EsD3-1, EsD4-1 and E s D 4 -2 have also been found [2,3,4,5]. In the present work the EsD gene frequency in a Veneto population has been investigated.…”

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confidence: 80%

Red cell esterase-D-polymorphism in the Veneto population

et al. 1978

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630 individuals and 102 mother/child pairs from the Veneto provinces were examined for their red cell EsD by Cellogel electrophoresis. Compared with the horizontal starch-gel electrophoresis no differences in the zymogram patterns have been found. The gene frequencies observed (EsD1 = 0.8556; EsD2 = 0.1444) differ only slightly from those reorted for various European populations and are nearly identical with data for other Italian populations. Family studies confirmed the Mendelian co-dominant inheritance.

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“…1976;Hopkinson et al, 1973;Koziol and Stepien. 1980;Kühnl et al, 1974;Martin and Ott, 1975;Olaisen et al, 1981;Palscheider and Dirnhofer, 1979;Rittner and Müller. 1975;present study].…”

Section: Application To Paternity Casesunclassified

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

Dissing¹,

Eriksen²

1984

Hum Hered

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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.

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Esterase D: Some Population and Formal Genetical Data

Cited by 17 publications

References 5 publications

Esterase D Polymorphism in Several Population Groups in Israel

Esterase D Polymorphism in Several Population Groups in Israel

Red cell esterase-D-polymorphism in the Veneto population

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

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