The correlation between PNP geneit c poyl morphisms and the susceptibility to endemic arseni c poisoning
HOU Wensheng
ZHANG Lifang
PEI Qiuling
Abstract：Objetc ive To investigate the correlation between genetic polymorphism of purine nucleoside phosphorylase ( PNP)and susceptibility to endemic arsenic poisoning .Methods Polymerase chain reaction-single strand conformation polymorphism (PCR S-SCP ) technology was used to detect the mutations of PNP gene exon 2 in 79 patients with endemic arsenic poisoning (case group) and 110 healthy subjects (control group),then the PCR products with abnormal band forms were further sequenced in order to find the types and sites of mutation . Chi-square test and multivariate logistic analysis were performed to analyze PNP genetic polymorphisms .Results Four mutations were found in PNP gene exon 2,two of them had been reported ,which were CAC→CAT at codon 20 (10.1%and 17.3% in case group and control group,respectively) and CCC→CCT at codon 57 (22.8% and 38.2%in case group and control group ,respectively).Another two mutations,GAA→AAA at codon 15 and GGT→C/AGT at codon 51,were found in this study ,the incidence of the two mutations was 11.4%in case group and 19.1% in control group, respectively.However there were no significant differences among the five kinds of mutations ( P >0.05).Conclusion Although the incidence of gene polymorphisms in PNP in case group is lower than that in control group ,the difference is not significant ,and it maybe the cause that sample size is less , and the sites of gene polymorphisms are located in the other exon or noncoding region .
Keywords：endemic arsenic poisoningpurine nucleoside phosphorylasepolymerase chain reaction-single strand conformation polymorphismgene sequencing
Publication Date：2013-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 2565-2568 )