中文摘要：

目的检测CYP1A2基因多态性在温州地区汉族正常人群的分布特征。方法采用聚合酶链反应（PCR）产物直接测序法检测108例随机血液样本DNA中CYP1A2基因序列单核苷酸多态性位点（SNP）的分布。对检测到的3个多态位点2159G〉A、3613T〉C、5347C〉T,进一步采用PCR技术分析472例正常人位点的基因型频率和等位基因频率。结果 （1）2159 G〉A位点：G和A等位基因的频率分别为93.8%,6.2%,GG、GA、AA基因型频率分别为87.7%、12.1%、0.2%（χ2=0.325,P〉0.05）;（2）3613 T〉C位点：T和C等位基因的频率分别为97.9%、2.3%,TT、TC、CC基因型频率分别为95.3%、4.4%、0.3%（χ2=0.298,P〉0.05）;（3）5347 C〉T位点：C和T等位基因的频率分别为87.9%、12.1%。CC、CT、TT基因型分布频率分别为77.8%、20.3%、1.9%（χ2=0.742,P〉0.05）;（4）2159 G〉A、5347 C〉T组成的单倍型频率为3.2%。结论温州地区汉族正常人群CYP1A2基因存在2159G〉A、3613T〉C、5347C〉T多态位点。

英文摘要：

Objective： To identify the distribution characteristics of the single nucleotide polymorphisms （SNPs） of the human CYP1A2 gene in a Chinese Han ethnic healthy group in Wenzhou. Methods： PCR and direct DNA sequencing were used to detect all of seven exons and six introns of CYPI A2 gene in 108 peripheral blood specimens of healthy people. For the three detected polymorphic sites： 2159G 〉 A, 3613T 〉 C and 5347C 〉 T, PCR technique was further developed to investigate the frequency of genotypes and alleles in 472 healthy cases. Results： （ 1 ） 2159G 〉 A site： the frequency of G and A alleles were 93.8% and 6. 2%, respectively. The frequency of each genotype was 87. 7% （ GG）, 12. 1% （ GA）, 0. 2% （AA） （X2 = 0. 325, P 〉 0. 05 ） ; （2） 3613T 〉 C site ： the frequency of T and C alleles were 97. 9% and 2. 3%, respectively. The frequency of each genotype was 95.3% （TT）, 4. 4% （TC）, 0. 3% （CC） （X2 = 0. 298, P 〉 0. 05） ; （3） 5347C 〉 T site ： the frequency of C and T alleles were 87.9% and 12. 1% , respectively. The frequency of each genotype was 77. 8% （CC）, 20. 3% （CT）, 1.9% （TT） （X2 = 0. 742, P 〉 0. 05 ） ; （4） The frequency of the haplotype （2159 G 〉 A, 5347 C 〉 T） was 3. 2%. Conlusion： Three CYP1A2 SNPs, 2159G 〉 A, 3613T 〉 C, 5347C 〉 T and one haplotype （2159 G 〉 A, 5347 C 〉 T） are present in Han ethnic healthy group in Wenzhou.