title: Molecular analysis of the human esterase D gene ESD(*)Q0(yonago) responsible for incompatibility in a Japanese paternity case.
abstract: In a Japanese paternity test, an alleged father was excluded only by reverse homozygosity of esterase D (ESD) phenotypes (mother, ESD 1; child, ESD 1; alleged father, ESD 2) out of 43 classical and DNA markers investigated. To solve the aberrant inheritance of the ESD phenotypes observed between them, fragments for all eight coding exons amplified by polymerase chain reaction (PCR) were subjected to DNA analysis. The child and alleged father shared a null allele, originating from ESD(*)1. It was characterized by having TGA for the stop codon instead of TCA for serine at codon 63. Thus, the sharing of a rare null gene, ESD(*)Q0(yonago), increased the probability of paternity.
authors.affiliation: Department of Legal Medicine, Faculty of Medicine, Tottori University, 86 Nishimachi, Yonago 683-8503, Japan. yuasai@grape.med.tottori-u.ac.jp
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.forename: Kazuo
authors.initials: K
authors.lastname: Umetsu
authors.forename: Shuichi
authors.initials: S
authors.lastname: Tsuchida
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Nakamura
authors.forename: Minoru
authors.initials: M
authors.lastname: Endoh
authors.forename: Mayumi
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Irizawa
mesh_terms: D000483:Alleles; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007525:Isoelectric Focusing; D007564:Japan; D008297:Male; D010334:Paternity; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human