Leone Paola E, Giménez Patricia, Collantes Juan Carlos, Paz-y-Miño César
Unidad de Genética, Facultad de Medicina, Pontificia Universidad Católica del Ecuador, Quito, Ecuador.
Ann Hematol. 2005 Feb;84(2):103-5. doi: 10.1007/s00277-004-0966-4. Epub 2004 Oct 29.
Type 1 hemochromatosis is a disorder of iron metabolism mostly related to the HFE gene mutations. In the present study, we performed a mutation analysis to determine the frequencies of the HFE gene mutations (C282Y, H63D, and S65C) in DNA samples of 100 healthy Ecuadorian individuals. We used the polymerase chain reaction (PCR) to amplify exons 2 and 4 of the HFE gene and then the restriction fragment length polymorphism (RFLP) method to detect the mutations. The results revealed that the mutations in the normal Ecuadorian population have frequencies of 0.0, 0.035, and 0.04 for C282Y, H63D, and S65C, respectively. We also searched for these mutations in 12 hemochromatosis patients, and the frequencies that we found were 0.0 for C282Y, 0.167 for H63D, and 0.042 for S65C. We found differences [using the chi-square (chi2) test] in the frequency of the H63D mutation between the control group and the group of hemochromatosis patients (p<0.01). This suggests that in Ecuador, type 1 hemochromatosis is more influenced by the H63D mutation than the other two mutations that we analyzed. Given that in a Caucasian population hereditary hemochromatosis is mostly related to the C282Y mutation, it is possible that the findings for the Ecuadorian population are due to geographical differences between the populations.
1型血色素沉着症是一种主要与HFE基因突变相关的铁代谢紊乱疾病。在本研究中，我们进行了一项突变分析，以确定100名健康厄瓜多尔个体的DNA样本中HFE基因突变（C282Y、H63D和S65C）的频率。我们使用聚合酶链反应（PCR）扩增HFE基因的第2和第4外显子，然后用限制性片段长度多态性（RFLP）方法检测突变。结果显示，在正常厄瓜多尔人群中，C282Y、H63D和S65C突变的频率分别为0.0、0.035和0.04。我们还在12名血色素沉着症患者中搜索了这些突变，发现的频率分别为：C282Y为0.0，H63D为0.167，S65C为0.042。我们发现（使用卡方检验）对照组和血色素沉着症患者组之间H63D突变频率存在差异（p<0.01）。这表明在厄瓜多尔，1型血色素沉着症受H63D突变的影响比我们分析的其他两种突变更大。鉴于在白种人群中，遗传性血色素沉着症主要与C282Y突变相关，厄瓜多尔人群的研究结果可能是由于不同人群之间的地理差异。
