上海地区汉族健康人群血小板活化因子乙酰水解酶基因7号外显子593位点T/C单核苷酸多态性的研究

目的了解血小板活化因子乙酰水解酶(PAF-AH)基因7号外显子593位点T/C位点单核苷酸多态性(SNP)在中国上海地区汉族健康人群中的分布特征。方法采用聚合酶链反应(PCR)和测序法,对110名上海地区汉族健康者PAF-AH 7号外显子593位点T/C位点的SNP进行检测,计算其基因型和等位基因频率,并结合文献对不同种族该位点的突变情况进行比较。结果对110名上海地区汉族健康者PAF-AH Ile198-Thr(exon7;position 593;T-C)位点多态性进行检测,其PCR扩增产物为240bp。110人中,TT型97人(88.18%),TC型13人(11.82%),未发现CC型。该位点突变的等位基因频率分布也以T(94.09%)最为多见,其次为C(5.91%)。结合文献进行分析发现,上海地区汉族健康人群该位点突变基因型(TC)频率(11.82%)高于德国地区人群(0.95%,P<0.05),但与英国地区人群(7.67%)相比无统计学差异。结论上海地区汉族健康人群PAF-AH第7外显子593位点存在单核苷酸多态性,其T→C位点碱基突变比例较高,该位点突变基因型频率为11.82%,其SNP高于德国地区人群,但与英国地区人群相比无统计学差异。

A study on single nucleotide polymorphism of exon 7 T/C(locus 593) of platelet-activating factor acetylhydrolase gene in healthy Han population in the Shanghai region

Objective To investigate the distribution of single nucleotide polymorphism(SNP) in platelet-activating factor acetylhydrolase(PAF-AH) gene exon 7 T/C(locus 593) in healthy Han population in Shanghai region and the features different from other races.Methods The SNP in PAF-AH gene exon 7 T/C(locus 593) was detected and analyzed by PCR and sequencing in 110 healthy Han people from Shanghai areas.The genotype and allele frequency were then calculated and compared with that in other races in combination with review of relevant literature.Results The amplified product of the SNP in PAF-AH gene exon 7 T/C(locus 593) was 240 bp in 110 healthy Han people,of whom 97 were with TT genotype and 13 with TC genotype,but no CC genotype was found.As to the allele frequency distribution,T type allele took the highest position,and C type followed.The genotype frequency of TT and TC was 88.2% and 11.8%,respectively,and they were markedly different from that in German population(0.95%),while not statistically significant different from that in British population(7.67%).Conclusions There exists SNP in PAF-AH gene exon 7 T/C(position 593) in healthy Han people in Shanghai region,with a higher frequency of T→C mutation.The mutational genotype frequency is found to be located at the locus 593 is 11.81%,and it is markedly different from that in German population,but not significantly different from that in British population.