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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Hemoglobin alpha 2 gene +861 GA polymorphism in Turkish population
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Hemoglobin alpha 2 gene +861 GA polymorphism in Turkish population

机译：土耳其人群血红蛋白alpha 2基因+861 G> A多态性

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Thalassemia is an inherited blood disorder which is divided into two groups: alpha and beta. HBA1 and HBA2 are the two genes associated with alpha thalassemia. The aim of this study is to investigate abnormal hemoglobin variants of alpha globin gene in healthy abnormal hemoglobin carrying individuals with intact beta globin gene. DNA was extracted from peripheral blood samples of seven healthy carrier individuals who have abnormal hemoglobin variants and 16 control individuals from Turkey. Complete coding and intronic sequences of HBA1 and HBA2 genes were amplified by polymerase chain reaction (PCR) and PCR products of HBA1 and HBA2 were sequenced. We were unable to find any base change in our carrier group in the HBA1 gene. We have observed an A/G polymorphism in the downstream untranslated region (+861 G>A) of the HBA2 gene. Our study showed that 14.29% (1/7 carriers) of the carrier group and 37.50% (6/16 controls) of the control group were heterozygous for the +861 G>A polymorphism. The distribution of allele frequencies and genotypes of HBA2 between carrier and control samples were analyzed and it is seen that the distribution of allele frequencies and that of genotypes were not statistically significant between carrier and control samples ( P -value=0.4131, P -value=0.366, respectively). HBA2 +861 G>A nucleotide substitution is a neutral polymorphism previously reported in other populations. This is the first report in Turkish population.
机译：地中海贫血是一种遗传性血液疾病，分为两类：α和β。 HBA1和HBA2是与地中海贫血有关的两个基因。这项研究的目的是研究携带完整的β球蛋白基因的健康异常血红蛋白个体中α球蛋白基因的异常血红蛋白变异体。从七个异常血红蛋白变异体的健康携带者个体和来自土耳其的16个对照个体的外周血样本中提取DNA。通过聚合酶链反应（PCR）扩增HBA1和HBA2基因的完整编码和内含子序列，并对HBA1和HBA2的PCR产物进行测序。我们在HBA1基因的载体组中找不到任何碱基变化。我们已经观察到HBA2基因的下游非翻译区（+861 G> A）中的A / G多态性。我们的研究表明，载体组的14.29％（1/7个载体）和对照组的37.50％（6/16对照）是+861 G> A多态性杂合的。分析了携带者和对照样品之间HBA2的等位基因频率和基因型分布，发现携带者和对照样品之间等位基因频率和基因型的分布无统计学意义（P -value = 0.4131，P -value =分别为0.366）。 HBA2 +861 G>核苷酸取代是先前在其他人群中报道的中性多态性。这是土耳其人口的第一份报告。

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