Population diversity and distinct haplotype frequencies associated with ache and bche genes of israeli jews from trans-caucasian georgia and from europe

Gal Ehrlich, Dalia Ginzberg, Yael Loewenstein, David Glick, Batsheva Kerem, Shlomi Ben-Ari, Haim Zakut, Hermona Soreq*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

32 Scopus citations

Abstract

Variant alleles of the butyrylcholinesterase gene, BCHE, have often been used to trace the genetic histories of populations. The D70G substitution in BCHE causes prolonged postanesthesia apnea (‘atypical’ phenotype); H322N substitution in the closely related acetylcholinesterase gene, ACHE, is the basis of the mutually incompatible Yt blood groups. In both genes, additional point mutations were reported to be linked to these phenotypically evident ones. To examine whether the intragenic linkage reported for the ACHE and BCHE mutations in Americans is universal, we studied frequencies of these mutations in trans-Caucasian Georgian Jews, a population that has remained relatively isolated for 1500 years. To this end we employed PCR amplification followed by DNA sequencing and enzymatic restriction and compared the frequencies we found to corresponding reported phenotype data. Georgian Jews N322 ACHE was a rather low 7.0% and was totally linked to a P446 mutation, in agreement with a recent report. In BCHE, however, G70 was a relatively high 5.8% and the V497 and T539 mutations were not found, either in Georgian or in Ashkenazi Jews, in contrast to reported findings in Americans. Our findings reveal distinct displays of ACHE and BCHE haplotypes in Georgian Jews and suggest different founder effects, genetic drifts, and/or selection pressures in the evolution of each of these genes.

Original languageAmerican English
Pages (from-to)288-295
Number of pages8
JournalGenomics
Volume22
Issue number2
DOIs
StatePublished - Jul 1994

Fingerprint

Dive into the research topics of 'Population diversity and distinct haplotype frequencies associated with ache and bche genes of israeli jews from trans-caucasian georgia and from europe'. Together they form a unique fingerprint.

Cite this