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目的运用TaqMan探针法对NRG3基因rs17101655 T→G单核苷酸多态性进行基因分型,探讨rs17101655 T→G单核苷酸多态性与原发免疫性血小板减少症(ITP)的关联性,为该病的发病机制提供重要线索。方法针对NRG3基因rs17101655位点T→G多态性,设计1对PCR引物和TaqMan探针,通过实时荧光PCR扩增进行基因分型;采用病例-对照研究,对中国汉族江西地区200例ITP和200例健康对照人群进行基因分型,比较两组人群基因型分布及频率差异。结果 Rs17101655位点T→G多态性的基因型和等位基因频率分布在ITP病例组和对照组中分布差异无统计学意义(P>0.05)。结论TaqMan探针法可快速、高效地对单核苷酸多态性进行基因分型,本研究结果显示NRG3基因rs17101655位点不作为中国汉族人群ITP的易感位点。
OBJECTIVE: To genotype rs17101655 T → G SNP of NRG3 gene using TaqMan probe and investigate the association of rs17101655 T → G SNP with idiopathic thrombocytopenia (ITP) Sex, provide an important clue for the pathogenesis of the disease. Methods A pair of PCR primers and TaqMan probes were designed according to the T → G polymorphism at rs17101655 site of NRG3 gene. Genotyping was performed by real-time PCR amplification. Case-control study was performed on 200 cases of ITP and 200 healthy controls were genotyped and genotype distribution and frequency differences were compared between the two groups. Results There was no significant difference in genotype and allele frequencies of T → G polymorphism at Rs17101655 between ITP cases and controls (P> 0.05). Conclusion The TaqMan probe method can rapidly and efficiently genotype single nucleotide polymorphisms. Our results show that the rs17101655 site of NRG3 gene is not a predisposing site for ITP in Chinese Han population.