伊拉克儿童急性淋巴细胞白血病的易感因素--HFE 基因突变

I. Albandar, Shilan Jabbar, Thanaa Kalil Ibrahim, Raghda Khalid
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摘要

血色沉着病是一种常见的遗传性疾病,会导致体内铁过量积聚,达到危险水平。遗传性血色病又称 HFE 相关性血色病,是由 HFE 基因的变化引起的。调查 HFE 基因的基因突变是探索这种疾病发病率的一种方法。本研究旨在确定巴士拉儿童专科医院(Basra Specialized Hospital for Children)和巴士拉AL-sadder教学医院(AL-sadder Teaching Hospital)患者的血色素沉着病HFE基因突变(C282Y和H63D)与儿童急性淋巴细胞白血病之间的关联。使用 QIAamp DNA 和血液迷你试剂盒分离和鉴定人类基因组 DNA,并使用 DNA 杂交法检测 HFE 基因突变。在这项研究中,发现患者和对照组均不存在 C282Y 突变。然而,基于 DNA 杂交实验的检测结果显示,H63D(同基因、杂合子)突变的检测水平较低;仅有 12.5%的患者检出了这种突变。对照组中有 10%的患者存在 H63D(仅同基因)突变。患者与对照组之间的关联被认为具有统计学意义。HFE 基因突变(C282Y 和 H63D)起源于儿童时期的急性淋巴细胞白血病,因此,本研究建议进行补充调查,以更多的患者病例更详细地说明这一病例,并发现这些突变背后隐藏的病原体。
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HFE Gene Mutations as Predisposing Factors for Childhood Acute Lymphoblastic Leukaemia in Iraqi Patients
Hemochromatosis is a prevalent hereditary disorder that causes excess iron to build up in the body to dangerous levels. Hereditary hemochromatosis, also known as HFE-related hemochromatosis is carried on by changes in the HFE gene. Investigating the gene mutations of the HFE gene is a way to explore the prevalence of this disease. This study aims to determine the association between hemochromatosis HFE gene mutations (C282Y and H63D) and childhood acute lymphoblastic leukaemia in patients at Basra Specialized Hospital for Children and AL-sadder Teaching Hospital in the Basra governance. QIAamp DNA and Blood Mini Kit were used to isolate and identify Human genomic DNA and detect mutations in the HFE gene using the DNA hybridization method. In this study, the absence of the C282Y mutations in both patients and the control group was identified. However, testing DNA-based hybridization experiments revealed low detection levels of the H63D (homozygous, heterozygous) mutations; in only 12.5% of patients. The H63D (only homozygous) mutations were present in 10% of the control group. The association between patients and the control group is considered statistically significant. The HFE gene mutations (C282Y and H63D), originate in acute lymphoblastic leukaemia in childhood, thus, this study recommends complementary investigations to illustrate this case in more detail with more cases of patients and discover the hidden agents underlying these mutations.
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