Genetic polymorphism of human peptidase C, PEPC (E.C.3.4.1.1): formal genetic and population data

Human peptidase C, PEPC (E.C.3.4.1.1), exhibits a previously undescribed genetic polymorphism, detectable in red cells or leukocytes by starch gel electrophoresis. Segregation analyses on 161 families with 469 offspring support the formal genetic hypothesis of two codominant alleles at an autosomal...

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Veröffentlicht in:Human genetics 1989-09, Vol.83 (2), p.197-198
Hauptverfasser: KÖMPF, J, PRATA, M. J, AMORIM, A
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Sprache:eng
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Zusammenfassung:Human peptidase C, PEPC (E.C.3.4.1.1), exhibits a previously undescribed genetic polymorphism, detectable in red cells or leukocytes by starch gel electrophoresis. Segregation analyses on 161 families with 469 offspring support the formal genetic hypothesis of two codominant alleles at an autosomal locus. Since four rare variants have previously been described, we named the polymorphic allele PEPC*6. Gene frequencies from southwestern Germany were PEPC*1 = 0.721 +/- 0.018; PEPC*6 = 0.276 +/- 0.018, and PEPC*R = 0.003 +/- 0.002.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00286718