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首页> 外文期刊>Journal of genetics >Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation
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Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation

机译：墨西哥北部的6-磷酸葡萄糖脱氢酶缺乏症和一个新突变的描述

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Glucose-6-phosphate dehydrogenase deficiency (G6PD) is the most common enzyme pathology in humans; it is X-linked inherited and causes neonatal hyperbilirubinaemia, chronic nonspherocytic haemolytic anaemia and drug-induced acute haemolytic anaemia. G6PD deficiency has scarcely been studied in the northern region of Mexico, which is important because of the genetic heterogeneity described in Mexican population. Therefore, samples from the northern Mexico were biochemically screened for G6PD deficiency, and PCR-RFLPs, and DNA sequencing used to identify mutations in positive samples. The frequency of G6PD deficiency in the population was 0.95% ($n = 1993$); the mutations in 86% of these samples were G6PD A-202A/376G, G6PD A-376G/968C and G6PD Santamaria376G/542T. Contrary to previous reports, we demonstrated that G6PD deficiency distribution is relatively homogenous throughout the country $(P = 0.48336)$, and the unique exception with high frequency of G6PD deficiency does not involve a coastal population (Chihuahua: 2.4%). Analysis of eight polymorphic sites showed only 10 haplotypes. In one individual we identified a new G6PD mutation named Mexico DF193AG (rs199474830), which probably results in a damaging functional effect, according to PolyPhen analysis. Proteomic impact of the mutation is also described.
机译：6-磷酸葡萄糖脱氢酶缺乏症（G6PD）是人类最常见的酶病理学。它是X连锁遗传的，并引起新生儿高胆红素血症，慢性非球囊溶血性贫血和药物引起的急性溶血性贫血。在墨西哥北部地区很少研究G6PD缺乏症，这很重要，因为在墨西哥人口中存在遗传异质性。因此，对来自墨西哥北部的样本进行了生化筛选，以确定其是否存在G6PD缺陷，PCR-RFLP和DNA测序，以鉴定阳性样本中的突变。人群中G6PD缺乏症的发生率为0.95％（$ n = 1993 $）;这些样品中有86％的突变是G6PD A-202A / 376G，G6PD A-376G / 968C和G6PD Santamaria376G / 542T。与先前的报告相反，我们证明了G6PD缺乏症的分布在全国范围内是相对均匀的（P = 0.48336）$，而G6PD缺乏症的高发率的唯一例外并不涉及沿海人口（Chihuahua：2.4％）。八个多态性位点的分析显示只有10个单倍型。根据PolyPhen分析，在一个人中，我们鉴定出一个新的G6PD突变，称为墨西哥DF193A> G（rs199474830），这可能导致破坏性的功能效应。还描述了突变的蛋白质组学影响。

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