Abstract：
: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.
journal_name
Hum Bioljournal_title
Human biologyauthors
Yuasa I,Umetsu K,Tsuchida S,Irizawa Y,Henke L,Henke Jdoi
10.1353/hub.2004.0051keywords:
subject
Has Abstractpub_date
2004-06-01 00:00:00pages
479-88issue
3eissn
0018-7143issn
1534-6617journal_volume
76pub_type
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