[Polymorphisms screening of PON gene cluster].
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.
Wang
Xiao-Ling
XL
Division of Population Genetics and Prevention, Fuwai Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100037, China. wangxl_74@yahoo.com
Fan
Zhong-Jie
ZJ
Huang
Jian-Feng
JF
Su
Shao-Yong
SY
Zhao
Jian-Gong
JG
Gu
Dong-Feng
DF
D043303:Aryldialkylphosphatase / Q000235:genetics*; D002681:China; D005787:Gene Frequency; D006801:Humans; D015810:Linkage Disequilibrium; D005810:Multigene Family / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
D043303:Aryldialkylphosphatase; C468406:PON1 protein, human