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首页> 外文期刊>Annales de biologie clinique >Molecular identification of Gd A- and Gd B-G6PD deficient variants by ARMS-PCR in a Tunisian population
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Molecular identification of Gd A- and Gd B-G6PD deficient variants by ARMS-PCR in a Tunisian population

机译：突尼斯人群中ARMS-PCR鉴定Gd A和Gd B-G6PD缺陷型变体

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摘要

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy. More than 200 mutations in the G6PD gene have been described. In Tunisia, the A-African and the B-Mediterranean mutations predominate the mutational spectrum. The purpose of this study was to apply the amplification refractory mutation system (ARMS-PCR) to the identification of Gd A+, Gd A- and Gd B-variants in a cohort of deficient individuals and to establish a phenotype/genotype association. 90 subjects were screened for enzymatic deficiency by spectrophotometric assay. The molecular analyses were performed in a group of 50 unrelated patients. Of the 54 altered chromosomes examined, 60% had the Gd A-mutation, 18% showed the Gd Bmutation and in 20% of cases, no mutations have been identified. The ARMSPCR showed complete concordance with the endonuclease cleavage reference method and agreed perfectly with previous Tunisian studies where Gd A-and Gd B-were the most encountered. Also, similarities in spectrum mutations with North African and Mediterranean countries suggest gene migration from Africa to Europe through Spain. In conclusion, ARMS has been introduced in this study for common G6PD alleles identification in Tunisia. It gives some advantages compared to the traditional endonuclease digestion method since it is more convenient and timesaving and also offers the possibility to be applied in mass screening surveys.
机译：6-磷酸葡萄糖脱氢酶（G6PD）缺乏是最常见的酶病。已经描述了G6PD基因中的200多个突变。在突尼斯，A-非洲和B-地中海突变占主导地位。这项研究的目的是将扩增难治性突变系统（ARMS-PCR）应用于鉴定一组缺陷个体中的Gd A +，Gd A-和Gd B变体，并建立表型/基因型关联。通过分光光度法筛选了90名受试者的酶缺乏症。在一组50名无关患者中进行了分子分析。在检查的54条改变的染色体中，有60％具有Gd A突变，有18％具有Gd B突变，在20％的情况下，未发现突变。 ARMSPCR显示与核酸内切酶裂解参考方法完全一致，并且与先前突尼斯研究中的Gd A和Gd B最常见的研究完全吻合。另外，与北非和地中海国家的频谱突变相似，表明基因通过西班牙从非洲迁移到欧洲。总之，本研究已引入ARMS用于突尼斯的常见G6PD等位基因鉴定。与传统的核酸内切酶消化方法相比，它具有一些优势，因为它更方便，更节省时间，并且还提供了应用于大规模筛选调查的可能性。

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