Polymorphisms screening of PON gene cluster

Xiao Ling Wang, Zhong Jie Fan, Jian Feng Huang, Shao Yong Su, Jian Gong Zhao, Dong Feng Gu

Research output: Contribution to journalArticlepeer-review


To identify all putative functional polymorphisms of PON gene cluster in Chinese Han population. Common polymorphisms of PON1, PON2 and PON3 gene were identified by directly sequencing of genomic DNAs derived from 48 randomly selected patients with coronary heart disease. We designed PCR arrays to amplify regions up to about 1kb upstream from transcription-initiation sites, i.e., putative promoter regions, all exons and adjacent non-coding regions. In a total length of 13.9 kb explored, we identified thirty-one SNPs, of which, 17 were first reported. A new coding polymorphism was detected in PON1 gene, which gives rise to amino acid substitutions of arginine (R) for glycine (G) at codon 160, whereas L54M polymorphism, which is common in white population, was not detected in our Han population. Among the five polymorphisms identified in PON3 gene, one in the promoter regions at position -133 (C/A) was located in a potential binding site for transcription factor LF-A1. Allele frequencies of some polymorphisms are significantly different from those reported in Caucasian populations. Complete or nearly complete association between polymorphisms was frequently observed. The identified multiple putative functional polymorphisms in PON gene cluster and their linkage disequilibrium patterns in combination with the population specific frequencies are of values for futher association studies of PON gene cluster with cardiovascular disease.

Original languageEnglish (US)
Pages (from-to)539-543
Number of pages5
JournalYi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji
Issue number4
StatePublished - Jul 2005
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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