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目的:探讨MTHFR、BMPR1B和TYMS基因多态性与先天性小耳畸形的相关性。方法:收集180例小耳畸形患者和141例健康对照,采用多重PCR分析方法对MTHFR rs4846049、BMPR1Brs1434536和TYMS rs2790位点进行基因型检测,采用χ~2检验分析各基因型频率和等位基因频率的在病例组和对照组中的分布,采用分层分析探讨3种基因多态性对不同性别先天性小耳畸形发病风险的影响。结果:TYMS基因rs2790位点基因型频率和等位基因频率分布在病例组与对照组中差异有统计学意义(P<0.05),进一步分层分析发现,TYMS rs2790基因多态性主要增加男性先天性小耳畸形发病风险(P<0.05),与携带AA基因型的个体相比,携带基因型AG、GG、AG+GG的个体发病风险分别为对照组的1.93、3.23和2.10倍,95%CI分别为1.07~3.48、1.12~9.33和1.20~3.68。未发现MTHFR rs4846049、BMPR1Brs1434536多态性和先天性小耳畸形有关(P>0.05)。结论:TYMS rs2790基因多态性和男性先天性小耳畸形发生有关。
Objective: To investigate the association between MTHFR, BMPR1B and TYMS gene polymorphisms and congenital malformations. Methods: One hundred and eighty cases of small ear malformations and 141 healthy controls were collected. The genotypes of MTHFR rs4846049, BMPR1Brs1434536 and TYMS rs2790 were detected by multiplex PCR analysis. The genotype frequency and allele frequency were analyzed byχ ~ 2 test In the case group and the control group, the stratified analysis was used to investigate the influence of the three genetic polymorphisms on the risk of congenital malformation of congenital malformation. Results: The genotype frequency and allele frequency distribution of rs2790 locus in TYMS gene were significantly different between the case group and the control group (P <0.05). Further stratified analysis showed that TYMS rs2790 gene polymorphism mainly increased congenital (P <0.05). Compared with individuals carrying AA genotype, the risk of developing individuals with genotypes AG, GG and AG + GG were 1.93, 3.23 and 2.10 times higher than that of the control group, 95% CI Respectively 1.07 ~ 3.48,1.12 ~ 9.33 and 1.20 ~ 3.68. No polymorphisms of MTHFR rs4846049, BMPR1Brs1434536 and congenital malformations were found (P> 0.05). Conclusion: The polymorphism of TYMS rs2790 is associated with the occurrence of congenital malformations in males.