中国白族、佤族和拉祜族人群MBL基因启动子区SNP的研究

目的:研究中国白族、佤族和拉祜族人群甘露聚糖结合凝集素(MBL)基因启动子区单核苷酸多态性(SNP)。方法:抽提人外周血白细胞基因组DNA,建立SSP-PCR及PCR-分子灯塔实时分析技术,检测MBL基因启动子区SNP位点-550(G/C,称H/L等位基因)、-220(G/C,X/Y等位基因)和 4 4(C/T,P/Q等位基因),分析其单倍型及基因型频率。结果:从 71例白族、73例佤族和 94例拉祜族人中,分别检出等位基因型LYP/LYP4例(5.6% )、4例(5. 5% )和 2例(2. 1% );HYP/LYQ6例 (8. 5% )、11例(15. 1% )和 12例 (12. 8% );LYP/LYQ21例 (29. 6% )、14例 (19.2% )和 51例 (54. 3% );LXP/LXP1例 (1. 4% )、2例 (2. 7% )和 0例;LYQ/LYQ10例(14. 1% )、14例 (19. 2% )、7例 (7. 4% );LXP/LYQ10例(14. 1% )、13例 (17. 8% )和 15例 (16. 0% );HYP/LYP4例(5. 6% )、3例(4. 1% )和 4例(4. 3% );HYP/LXP3例(4. 2% )、1例(1. 4% )和 0例;HYP/HYP12例(16. 9% )、11例(15. 1% )和 3例(3. 2% )。结论:中国白族、佤族、拉祜族普通人群之间,MBL基因启动子区等位基因L/H的分布存在差异(P<0. 01),X/Y和P/Q无统计学意义的差异(P>0. 05);各单倍型和各基因型的分布存在差异(P<0. 01);基因型LYP/LYQ和LXP/LYQ在 3个民族均有较高的分布,其总体频率分别达 36. 1%及 16.

Investigation of single nucleotide polymorphisms in the promoter region of mannan-binding lectin gene in Bais, Uars and Lahus ethnics from China

AIM: To investigate the single nucleotide polymorphisms(SNP) in the promoter region of mannan-binding lectin (MBL) gene in Bais, Uars and Lahus ethnics. METHODS: 71, 73 and 94 blood samples were obtained from Bais, Uars and Lahus subjects, respectively from Yunnan province. Genomic DNA was isolated from leucocytes. Polymorphism alleles -550(G/C, named H/L alleles), -220(G/C, X/Y alleles) and +4(C/T, P/Q alleles) in the promoter region of MBL gene were detected by sequence-specific primer-PCR and molecular beacon real-time PCR, and the frequencies of haplotypes and genotypes were analyzed. RESULTS: The frequencies of genotypes in Bais, Uars and Lahus ethnics were as follows: LYP/LYP 4(5.6%), 4(5.5%)and 2(2.1%); HYP/LYQ 6(8.5%), 11(15.1%) and 12(12.8%); LYP/LYQ 21(29.6%), 14(19.2%) and 51(54.3%); LXP/LXP 1(1.4%), 2(2.7%)and 0,LYQ/LYQ 10(14.1%); 14(19.2%), 7(7.4%), LXP/LYQ 10(14.1%), 13(17.8%) and 15(16.0%); HYP/LYP 4(5.6%), 3(4.1%) and 4(4.3%); HYP/LXP 3(4.2%), 1(1.4%) and 0; HYP/HYP 12(16.9%), 11(15.1%) and 3(3.2%). CONCLUSION: The distribution of alleles L/H is statistically different among Uars, Bais and Larhus(P<0.01), while X/Y and P/Q are not statistically significant(P>0.05). All studied haplotypes and genotypes are statistically different among the 3 ethnics(P<0.01). Genotypes LYP/LYQ and LXP/LYQ are common in all the 3 ethnics.