ARUP Laboratories and University of Utah School of Medicine, Salt Lake City, UT 84132-2408, USA.
Blood Cells Mol Dis. 2012;49(3-4):152-8. doi: 10.1016/j.bcmd.2012.06.003. Epub 2012 Jul 5.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, affecting more than 500 million people worldwide, is one of the most common of inherited disorders. There are 186 G6PD mutations published, with mutational clustering within defined ethnic/racial groups. However comprehensive molecular characterization of ethnically associated G6PD mutants and their clinical implications are lacking.
Eighty unrelated Palestinian children hospitalized for hemolysis were studied. G6PD activity was determined by quantitative spectrophotometry and G6PD mutations were analyzed by sequencing of gDNA.
65 of 80 children (81%) had G6PD deficiency, accounting for most of the hemolytic disease in this age group. G6PD Mediterranean(c.563T), African G6PD A-(c.202A/c.376G), and G6PD Cairo(c.404C) were common with relative allele frequencies of 0.33 [1], 0.26, and 0.18 respectively. Two other variants were discovered, G6PD Beverly Hills(c.1160A) mutation, and a novel G6PD missense mutation c.536G>A (Ser179Asn), designated G6PD "Gaza". Three samples exhibited enzyme deficiency without detectable exonic or exon/intron boundary mutations.
G6PD deficiency accounts for the majority of diagnoses for hemolysis in Palestinian children (81%), providing support for newborn G6PD deficiency screening programs. We report unanticipated molecular heterogeneity of G6PD variants among Gaza Strip Palestinians greater than reported in neighboring Arab populations. We report a high proportion of affected children with G6PD Cairo, which was observed previously in only a single Egyptian, and a novel mutation G6PD "Gaza".
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症影响着全球超过 5 亿人，是最常见的遗传性疾病之一。目前已有 186 种 G6PD 突变被发表，这些突变在特定的种族/人群中聚集。然而，与种族相关的 G6PD 突变体的全面分子特征及其临床意义尚不清楚。
对 80 名因溶血而住院的巴勒斯坦无亲缘关系的儿童进行了研究。通过定量分光光度法测定 G6PD 活性，并通过 gDNA 测序分析 G6PD 突变。
80 名儿童中有 65 名（81%）患有 G6PD 缺乏症，占该年龄段溶血性疾病的大多数。G6PD 地中海（c.563T）、非洲 G6PD A-（c.202A/c.376G）和 G6PD 开罗（c.404C）是常见的突变，相对等位基因频率分别为 0.33[1]、0.26 和 0.18。还发现了另外两种突变，G6PD Beverly Hills（c.1160A）突变和一种新的 G6PD 错义突变 c.536G>A（Ser179Asn），命名为 G6PD“Gaza”。三个样本表现出酶缺乏，但未检测到外显子或外显子/内含子边界突变。
G6PD 缺乏症占巴勒斯坦儿童溶血诊断的大多数（81%），为新生儿 G6PD 缺乏症筛查计划提供了支持。我们报告了加沙地带巴勒斯坦人中 G6PD 变异的分子异质性出人意料，高于邻近阿拉伯人群的报道。我们报告了一个比例较高的受影响的儿童具有 G6PD 开罗，之前仅在一个埃及人中观察到，和一个新的突变 G6PD“Gaza”。
