College of Physical Education, Hanyang University, Seoul, 133-791, Korea.
Mol Biol Rep. 2010 Dec;37(8):4051-7. doi: 10.1007/s11033-010-0064-8. Epub 2010 Mar 20.
Several studies reported that there were the associations between the genetic polymorphisms in the mitochondrial DNA (mtDNA) and some blood iron markers. Thus, we tried to investigate the relationship between two genetic polymorphisms (5178C/A and 16189T/C) in the mtDNA and several blood iron markers in Korean men. A total of unrelated 131 Korean men were participated in this study. Two genetic polymorphisms in the mtDNA was determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) method, and hematological or biochemical assay performed by autoanalyzer. Although the 16189T/C polymorphism was not significantly associated with any iron parameters measured in this study, we found that the 5178C/A polymorphism was significantly associated with red blood cell (RBC) count and hematocrit (HCT) value in Korean men (P < 0.05). Therefore, our data suggest that the 5178C/A polymorphism in the mtDNA might be useful as a genetic marker with respect to blood iron metabolism.
几项研究报告称，线粒体 DNA（mtDNA）中的遗传多态性与一些血液铁标志物之间存在关联。因此，我们试图探讨韩国男性中 mtDNA 中的两个遗传多态性（5178C/A 和 16189T/C）与几种血液铁标志物之间的关系。共有 131 名无关的韩国男性参与了这项研究。通过聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）方法确定 mtDNA 中的两个遗传多态性，通过自动分析仪进行血液学或生物化学检测。尽管 16189T/C 多态性与本研究中测量的任何铁参数均无显著相关性，但我们发现 5178C/A 多态性与韩国男性的红细胞（RBC）计数和血细胞比容（HCT）值显著相关（P <0.05）。因此，我们的数据表明，mtDNA 中的 5178C/A 多态性可能是血液铁代谢的有用遗传标志物。
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