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目的:探讨转铁蛋白(Tf)的基因变异对育龄妇女缺铁性贫血的影响。方法:从医院收集18～45岁女性缺铁性贫血(IDA)患者171人作为IDA病例组,社区中筛选各项铁生化指标正常者,经婚姻状况和年龄配对98人作为对照组,应用PCR-RFLP技术,分析Tf基因的G258S(G/A)位点多态性。结果:本组人群存在Tf基因的G258S(G/A)位点杂合突变GA基因型、纯合突变AA基因型未检出。对照人群野生基因型GG和杂合突变基因型GA频率分别为67.3%、32.7%;IDA组GG、GA基因型频率分别为33.9%、66.1%,两组间基因型构成和等位基因频率差异均有统计学意义。与GG基因型相比,GA基因型患IDA的OR为4.02(95%CI:2.37～6.81);与G等位基因携带者相比,A等位基因携带者患IDA的OR为2.52(95%CI:1.30～4.89)。IDA组内、对照组内的不同基因型SF水平和Hb水平差异均无统计学意义,单就Tf基因G258S(G/A)位点2种基因型来说,GG基因型的SF水平明显高于GA基因型,且两者差异有统计学意义;而不同基因型间Hb水平差异无统计学意义。结论:铁代谢相关Tf基因的G258S位点变异可能是IDA发生的危险因素。
Objective: To investigate the effects of gene transfer of transferrin (Tf) on iron deficiency anemia in women of childbearing age. METHODS: A total of 171 IDA patients aged 18-45 years were recruited as IDA cases from the hospital. All the patients with normal iron biochemical indexes were screened out from the hospital. 98 males and 98 females were matched by age and sex. -RFLP technique to analyze the G258S (G / A) polymorphism of Tf gene. Results: There were heterozygous GA genotypes in G258S (G / A) locus of Tf gene in this population, and no AA genotype was detected in homozygous mutant. The frequencies of GG genotypes and heterozygous GA genotypes in control population were 67.3% and 32.7%, respectively. The frequencies of GG and GA genotypes in IDA group were 33.9% and 66.1%, respectively. The difference in genotypes and allele frequencies between the two groups All have statistical significance. Compared with the GG genotype, the OR of GA genotype was 4.02 (95% CI: 2.37-6.81). Compared with the G allele, the OR of IDA of the A allele was 2.52 (95 % CI: 1.30 ~ 4.89). In the IDA group, there was no significant difference in SF level and Hb level among different genotypes in the control group. For the two genotypes of the Tf gene G258S (G / A) site, the SF level of the GG genotype was significantly higher In GA genotype, and the difference was statistically significant; but there was no significant difference in Hb level between different genotypes. Conclusion: The G258S locus mutation in the iron metabolism-related Tf gene may be a risk factor for IDA.