Molecular basis of ESD*5 and ESD*7 and haplotype analysis with new polymorphisms in introns.
The two polymorphic alleles of esterase D (ESD), ESD*5 and ESD*7, are specific to Europeans and Asians, respectively. In this study the molecular basis was characterized: ESD*5, arising from ESD*1, has a G to A transition, resulting in Gly257(GGT) --> Asp(GAT); and ESD*7, originating from ESD*2, has an A to G transition, resulting in Asp231(GAT) --> Gly(GGT). Glycine is also involved in the common ESD*1/ESD*2 polymorphism [Gly190(GGA) --> Glu(GAA)]. Haplotype analysis using a few novel intragenic polymorphisms showed strong associations among polymorphic sites, suggesting that recombination has been less frequent in the human ESD gene, although it spans about 25 kb from exon 1 to exon 10. A marked difference was observed in the distribution of haplotype frequencies between Germans and Japanese.
Yuasa
Isao
I
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.
Umetsu
Kazuo
K
Tsuchida
Shuichi
S
Irizawa
Yoshito
Y
Henke
Lotte
L
Henke
Jürgen
J
D000818:Animals; D043182:Carboxylesterase / Q000235:genetics*; D005828:Genetics, Population; D005858:Germany; D006239:Haplotypes; D006801:Humans; D007438:Introns / Q000235:genetics*; D007564:Japan; D051379:Mice; D008967:Molecular Biology; D010641:Phenotype; D011110:Polymorphism, Genetic; D013552:Swine
D043182:Carboxylesterase; C020118:ESD protein, human