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目的:建立胰岛素样生长因子结合蛋白-3(Insulin-like growth factor binding protein-3,IGFBP-3)基因启动子-202位点A/C多态性(rs2854744)的测定方法,考查该位点基因型在中国北方汉族健康受试者中的分布情况。方法:采用聚合酶链式反应-限制性内切酶片段长度多态性(PCR-RFLP)分析技术检测该位点的基因型,并用直接测序验证检测方法的准确性。结果:对100例无亲缘关系的汉族健康受试者的分析结果表明:-202位点等位基因A和C的频率分别为0.750和0.250,AA、AC和CC的频率分别为0.560、0.370和0.070。结论:中国北方汉族人IGFBP-3基因启动子-202位点存在遗传多态性;本研究建立的基因型测定与分析方法特异、准确,可满足IGFBP-3遗传多态性研究的需要。
OBJECTIVE: To establish a method for the determination of A / C polymorphism (rs2854744) at IGF-2 gene promoter-Insulin-like growth factor binding protein-3 (IGFBP-3) Genotype distribution in healthy Han Chinese subjects in northern China. Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the genotype of this locus. The accuracy of the method was verified by direct sequencing. Results: The analysis of 100 unrelated Han healthy subjects showed that the frequencies of alleles A and C at -202 locus were 0.750 and 0.250, respectively, and the frequencies of AA, AC and CC were 0.560 and 0.370, respectively 0.070. CONCLUSION: Genetic polymorphism exists at the -202 locus of IGFBP-3 gene in Chinese Han population in northern China. The genotyping and analysis methods established in this study are specific and accurate and can meet the needs of IGFBP-3 genetic polymorphism research.