A positive correlation between mutated gene of sickle cell anemia and glucose-6-phosphate dehydrogenase among gond tribes of Chhattisgarh, India

IF 1.5 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis Pub Date : 2023-12-10 DOI:10.1016/j.mrfmmm.2023.111849

Ekta Singh, Lohit Raj Shivwanshi, Anil Kumar

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引用次数: 0

Abstract

Background

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy affecting millions of individuals worldwide. It is believed that the prevalence of G6PD deficiency in different ethnic populations increases its association with other pathological conditions especially sickle cell anemia (SCA), as they both are well-known adaptations against malaria. Thus, the present study aims to determine the frequency of G6PD deficiency among SCA patients and the association between them in the tribal community (Gond) of Chhattisgarh, India.

Method

A total of 810 samples from three different age groups i.e., 10–20, 21–30, and 31–40 years were collected from the tribal community (Gond) of Kabirdham district of Chhattisgarh. The frequency of SCA was determined by a slide test followed by cellulose acetate paper electrophoresis and G6PD deficiency by methemoglobin reduction test. Glutathione-S-Transferase (GST) gene polymorphism in sickle celled individuals and variant analysis in G6PD deficient individuals were analyzed by RT-PCR.

Results

The frequency of SCA and G6PD deficiency was reported at 9.75% and 17.16% respectively and a high degree of positive correlation between SCA and G6PD deficiency was also found (HbSS-G6PD deficient: r = 0.84, p = .356; HbAS-G6PD deficient: r = 0.89, p = .345). Results of the GST gene revealed that GSTM1 and GSTT1 genes are present in almost all sickled individuals while GSTP1 and GSTP1a exist in the mutated form in a maximum percentage of individuals. G6PD variant analysis also showed that 70% and 60% of individuals have mutated Mahidol and Union variants respectively, while none of the individuals have mutated Chinese variants.

Conclusion

A high degree of correlation between SCA and G6PD was reported among Gond tribes of Chhattisgarh, India with a high degree of mutated GSTP1, GSTP1a, Mahidol, and Union variants. The study makes it possible to take specific preventive measures concerning the medication of anti-oxidizing drugs.

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印度恰蒂斯加尔邦贡德部落镰状细胞性贫血突变基因与葡萄糖-6-磷酸脱氢酶之间的正相关性

背景葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是最常见的酶病，影响着全球数百万人。人们认为，G6PD 缺乏症在不同种族人群中的发病率增加了它与其他病症的关联性，尤其是镰状细胞性贫血（SCA），因为它们都是众所周知的抗疟疾适应症。因此，本研究旨在确定印度恰蒂斯加尔邦部落社区（Gond）中 SCA 患者中 G6PD 缺乏症的频率以及两者之间的关联。方法：本研究从恰蒂斯加尔邦卡比尔达姆区的部落社区（Gond）中收集了 810 份样本，分别来自三个不同的年龄组，即 10-20、21-30 和 31-40 岁。通过玻片测试和醋酸纤维素纸电泳确定了 SCA 的频率，并通过高铁血红蛋白还原测试确定了 G6PD 缺乏症。通过 RT-PCR 分析了镰状细胞患者的谷胱甘肽-S-转移酶（GST）基因多态性和 G6PD 缺乏症患者的变异分析。SCA和G6PD缺乏症的发病率分别为9.75%和17.16%，SCA和G6PD缺乏症之间存在高度正相关（HbSS-G6PD缺乏症：r = 0.84，p = .356；HbAS-G6PD缺乏症：r = 0.89，p = .345）。GST 基因分析结果显示，几乎所有镰状红细胞症患者体内都存在 GSTM1 和 GSTT1 基因，而 GSTP1 和 GSTP1a 基因则以突变形式存在于最大比例的患者体内。G6PD 变异分析还显示，分别有 70% 和 60% 的个体存在变异的 Mahidol 和 Union 变异，而没有个体存在变异的中国变异。这项研究有助于采取具体的预防措施，服用抗氧化药物。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis 生物-毒理学

CiteScore

4.90

自引率

0.00%

发文量

审稿时长

51 days

期刊介绍： Mutation Research (MR) provides a platform for publishing all aspects of DNA mutations and epimutations, from basic evolutionary aspects to translational applications in genetic and epigenetic diagnostics and therapy. Mutations are defined as all possible alterations in DNA sequence and sequence organization, from point mutations to genome structural variation, chromosomal aberrations and aneuploidy. Epimutations are defined as alterations in the epigenome, i.e., changes in DNA methylation, histone modification and small regulatory RNAs. MR publishes articles in the following areas: Of special interest are basic mechanisms through which DNA damage and mutations impact development and differentiation, stem cell biology and cell fate in general, including various forms of cell death and cellular senescence. The study of genome instability in human molecular epidemiology and in relation to complex phenotypes, such as human disease, is considered a growing area of importance. Mechanisms of (epi)mutation induction, for example, during DNA repair, replication or recombination; novel methods of (epi)mutation detection, with a focus on ultra-high-throughput sequencing. Landscape of somatic mutations and epimutations in cancer and aging. Role of de novo mutations in human disease and aging; mutations in population genomics. Interactions between mutations and epimutations. The role of epimutations in chromatin structure and function. Mitochondrial DNA mutations and their consequences in terms of human disease and aging. Novel ways to generate mutations and epimutations in cell lines and animal models.