Beta肾上腺素能受体3种亚型基因的5位点SNP基因型的组合分布

Genotype Combination Distribution of 5-Site SNPs in 3 Subtypes of Beta Adrenoceptor

用 DNA提取试剂盒抽提 338例受试者外周血 DNA,用聚合酶链反应 -限制性片段长度多态性及等位基因特异性 PCR技术获得 Beta- AR3种亚型基因的 5个位点的 SNP基因型。用聚类分析技术获得了 338例受试者的 Beta- AR3种亚型基因的 5个位点的 SNP基因型组合的自然分布特征 ,共发现了 6 7种组合类型。SNP基因型组合的自然分布的前 5位有 :(1) B1- AR S/ S4 9+B1- AR R/ R389+B2 - AR R/ G16 +B2 - AR Q/ E2 7+B3- AR W/W6 4有 4 0人 ,出现概率为 11.83%。 (2 ) B1- AR S/ S4 9+B1- AR R/ R389+B2 - AR R/ G16 +B2 - AR Q/ Q2 7+B3- ARW/ W6 4有 33人 ,出现概率为 9.76 %。 (3) B1- AR S/ S4 9+B1- AR R/ G389+B2 - AR R/ G16 +B2 - AR Q/ Q2 7+B3-AR W/ W6 4有 19人 ,出现概率为 5 .6 2 %。 (4) B1- AR S/ S4 9+B1- AR R/ G389+B2 - AR R/ G16 +B2 - AR Q/ E2 7+B3- AR W/ W6 4有 16人 ,出现概率为 4 .74 %。 (5 ) B1- AR S/ G4 9+B1- AR R/ R389+B2 - AR R/ G16 +B2 - AR Q/E2 7+B3- AR W/ W6 4有 13人 ,出现概率为 3.85 %。总样本与女、男亚组间及女、男亚组间的 SNP的组合分布间具有较好的相关性。

DNA was extracted from the peripheral venous blood of 338 subjects using BLOOD DNA MINI KIT. The 5 site SNP in 3 subtypes of Beta-AR were genotyped by PCR-RFLP （polymerase chain reactionrestriction fragment length polymorphism） and allele-specific primer PCR techniques. The genotypes combination distribution of SNP at 5 sites in the 3 subtypes of Beta-AR were determined by clustering analysis technique. The natural combination distribution characteristics for SNP at 5 sites in the 3 subtypes of Beta-AR in 338 subjects were obtained. Sixty-seven combinations types were found. The preceding 5 combinations in the natural combination distribution of the SNP were： （1）The genotype combination of forty subjects was B1-AR S/S49＋B1- AR R/R389＋B2-AR R/G16＋B2-AR Q/E27＋B3- AR W/W64,its probability was 11.83%. （2）The genotype combination of thirty-three subjects was B1-AR S/S49 ＋ B1-AR R/R389＋B2-AR R/G16＋B2-AR Q/Q27＋B3- AR W/W64,its probability was 9.76%. （3）The genotype combination of nineteen subjects was B1-AR S/S49＋B1- AR R/G389 ＋ B2-AR R/G16 ＋ B2-AR Q/Q27 ＋ B3-AR W/W64, its probability was 5.62%. （4） The genotype combination of sixteen subjects was B1-AR S/S49＋B1-AR R/G389＋B2-AR R/G16＋B2-AR Q/E27＋B3- AR W/W64,its probability was 4.74%. （5）The genotype combination of thirteen subjects was B1-AR S/G49＋B1-AR R/R389＋B2-AR R/G16＋B2-AR Q/E27＋B3-AR W/W64,its probability was 3.85%. The obvious correlations exist among full sample and female or male subgroup, and between female and male subgroups.