Three new mutations account for the prevalence of glucose 6 phosphate deshydrogenase (G6PD) deficiency in Tunisia
Three new mutations account for the prevalence of glucose 6 phosphate deshydrogenase (G6PD) deficiency in Tunisia
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DOI：
10.1016/j.patbio.2012.03.005
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发表时间：
2013-04-01
影响因子：
--
通讯作者：
Abbes, S.
中科院分区：
文献类型：
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作者：
Bendaoud, B.;Hosni, I.;Abbes, S.
先前在突尼斯人群中进行的一项关于G6 PD缺乏症的研究发现了7种不同的突变，其中G6 PD A-变体的患病率较高。本研究报告了23个新的无关缺陷的受试者在分子水平上研究，以确定导致G6 PD缺乏症的突变。采用PCR-SSCP技术对编码区进行测序，发现3个新的突变。其中两个是多态性内含子突变。第一种是IVS-V 655 C-> C/T，在4名III类变异体轻度缺乏的女性受试者中发现。第二个是IVS-VIII 43 G -> A，在三名III类变异轻度缺乏的男性受试者中发现。第三个突变位于外显子区域，因此它改变了分子的一级结构。它是第一次被引用，并命名为G6 PD突尼斯。该变体影响基因组位置15435 G -> T处基因的外显子7。其cDNA位置为93 G → G/T，由arg 246变为leu。这种突变被发现在一个杂合子女性缺乏II类谁有溶血性贫血，由于摄入蚕豆。最后，G6 PD Med变异，以前在3例报告，也发现在其他5例（4杂合子女性和男性hernizygote）。这些发现首先将突变的范围扩大到十种变异突变，表征突尼斯人口，并有助于我们实验室的血红蛋白基因研究，以追踪突尼斯人口的整个遗传图谱。(C)2012年Elsevier Masson SAS。All rights reserved.
A previous study on G6PD deficiency carried out on Tunisian population, led to the finding of seven different mutations with the prevalence of G6PD A- variant. This present study reports 23 new unrelated deficient subjects studied at the molecular level to determine the mutation that causes G6PD deficiency. Using PCR-SSCP of coding regions followed by direct sequencing of abnormal pattern, three new mutations were detected. Two of them are polymorphic intronic mutations. The first is IVS-V 655C -> C/T, found in four female subjects with mild deficiency of class III variant. The second is IVS-VIII 43 G -> A, found in three male subjects with mild deficiency of class III variant. The third mutation is in the exon region so that it changes the primary structure of the molecule. It is cited for the first time and named G6PD Tunisia. This variant affects the exon 7 of the gene at genomic position 15435 G -> T. Its cDNA position is 93 G -> G/T, it changes arg 246 to leu. This mutation was found in one heterozygote female with deficiency of class II who have had hemolytic anemia due to ingestion of fava beans. Finally, G6PD Med variant, reported before in three cases, was also found in five other cases (four heterozygote females and one male hernizygote). These findings first enlarge the spectre of mutations to be ten variant mutations, characterizing the Tunisian population and also contribute with hemoglobin gene research in our laboratory to trace the whole genetic map of Tunisian population. (C) 2012 Elsevier Masson SAS. All rights reserved.