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首页> 外文期刊>International Journal of Research in Medical Sciences >In silico mutation analysis of human beta globin gene in sickle cell disease patients
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In silico mutation analysis of human beta globin gene in sickle cell disease patients

机译：镰状细胞病患者中人β球蛋白基因的计算机突变分析

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Background: Sickle cell disease is an inherited blood disorder that affects red blood cells. People with sickle cell conditions make a different form of hemoglobin a called hemoglobin S. Sickle cell conditions are inherited from parents in much the same way as blood type, hair color and texture, eye color and other physical traits. Sickle cell disease occurs due to a single mutation on the b-globin gene, namely, a substitution of glutamic acid for valine at position 6 of the b chain. Several mutations in HBB gene can cause sickle cell disease. Abnormal versions of beta-globin can distort red blood cells into a sickle shape. The sickle-shaped red blood cells die prematurely, which can lead to anemia. The study is focused on analysis of HBB gene with its different variants, Evolutionary pathways and protein domains by using various bioinformatics tools. Methods: The study is focused on analysis of HBB gene with its different variants, Evolutionary pathways and protein domains by using various bioinformatics tools. Results: Sickle cell disease occurs due to a single mutation on the b-globin gene, namely, a substitution of glutamic acid for valine at position 6 of the b chain. Several mutations in HBB gene can cause sickle cell disease. Abnormal versions of beta-globin can distort red blood cells into a sickle shape. Comparative study shown 38 different genes with little genetic variation among different species. Conclusion: Studies suggested that there is need to maintain a primary prevention program to detect sickle cell disease at earlier stages despite having a large high risk. Preventive diagnosis and follow-up would reduce infant mortality by preventing the development of severe anemia as well as dangerous complications. In short, sickle cell disease surveillance would avert loss of life, measured as the number of years lost due to ill-health, disability or early death.
机译：背景：镰状细胞病是一种影响红细胞的遗传性血液病。患有镰状细胞病的人会产生另一种形式的血红蛋白，称为血红蛋白S。镰状细胞病是从父母那里继承的，其遗传方式与血型，头发的颜色和质地，眼睛的颜色以及其他身体特征基本相同。镰状细胞病的发生是由于b球蛋白基因上的单个突变，即在b链第6位的谷氨酸被缬氨酸取代。 HBB基因中的几个突变会导致镰状细胞病。 β-珠蛋白的异常形式会使红细胞变形为镰刀状。镰刀状的红细胞过早死亡，可导致贫血。这项研究的重点是通过使用各种生物信息学工具分析HBB基因及其不同的变异，进化途径和蛋白质结构域。方法：本研究着重于使用各种生物信息学工具分析HBB基因的不同变异，进化途径和蛋白质结构域。结果：镰状细胞病的发生是由于b-珠蛋白基因上的单个突变，即在b链第6位的谷氨酸被缬氨酸取代。 HBB基因中的几个突变会导致镰状细胞病。 β-珠蛋白的异常形式会使红细胞变形为镰刀状。比较研究显示38种不同的基因在不同物种之间几乎没有遗传变异。结论：研究表明，尽管有很高的风险，但仍需要维持一级预防计划以早期发现镰状细胞疾病。预防性诊断和随访将通过预防严重贫血和危险并发症的发生而降低婴儿死亡率。简而言之，镰状细胞疾病的监测可以避免生命的丧失，以健康不良，残疾或过早死亡所导致的年数来衡量。

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