摘要
目的 探讨二价金属离子转运蛋白1（DMT1）的基因变异与缺铁性贫血的关系。方法 收集北京大学第三医院非孕18～45岁缺铁性贫血（IDA）女性患者82人作为病例组，选取北京市顺义区和河北省廓坊市94名同龄健康育龄妇女作为正常对照，应用聚合酶联反应-限制性酶切片段长度多态性（PCR—RFLP）技术，分析DMT1基因的IVS4＋44位点多态性。结果 本研究人群中存在DMT1基因的IVS4＋44位点杂合突变（＋／-）和纯合突变（＋／＋）基因型。对照组（＋／-）基因型和（＋）等位基因的频率分别为28．7％和14．4％；IDA组（＋／＋）、（＋／-）基因型和（＋）等位基因的频率分别为2．4％。19．5％，12．2％。与对照组相比。基因型构成差异无统计学意义。（＋／-）＆（＋／＋）基因型患IDA的比值比（OR）为0．70，95％CI：0．35～1．39；IDA组及对照组不同基因型血清铁蛋白（SF）、血红蛋白（Hb）水平差异均无统计学意义。结论 DMT1基因的IVS4＋44位点变异与IDA的发生无明显关联。
Objective To investigate the association between single nucleotide polymorphism of relations of IVS4 ＋ 44 locus on Divalent metal transporter - 1 （DMT1） gene and iron deficiency anemia in Beijing region. Methods 82 IDA patients （18-45 years old）were selected as case group and 94 normal populations as control. For all subjects the gene polymorphism at DMT1 IVS4 ＋ 44 locus was analyzed by PCR - RFLP method, and the SF and Hb levels were detected. Results The heterozygotes（ ＋ / - ）genotype and homozygotes（ ＋ / ＋ ）were both detected in the subjects. In control group the frequency of （ ＋ / - ） genotype and （ ＋ ） allele was 28.7 and 14.4, lower than Pauline L. Lee＇ s report and Thomas Kelleher＇ s report. In case group the frequency of （ ＋/＋ ）, （ ＋/- ）genotype and （ ＋ ）allele was 2.4, 19.5 and 12.2, without significandy different from control. The odds ration of （ ＋ / - ） ＆ （ ＋ / ＋ ） genotype was 0.70 （0.35, 1.39）. There was not significant difference from SF and Hb levels between different genotypes in case group and control group. Conclusion There was not apparent association between DMT1 gene IVS4 ＋ 44 locus variation with IDA, SF level and Hb level. Further studies are needed.
出处
《中国公共卫生》
CAS
CSCD
北大核心
2006年第8期953-955,共3页
Chinese Journal of Public Health
基金
达能营养研究基金
关键词
缺铁性贫血
基因多态性
血清铁蛋白
血红蛋白
iron deficiency anemia
divalent metal transporter- 1
gene polymorphism, serum ferritin
hemoglobin
