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沙特阿拉伯王国吉达市葡萄糖-6-磷酸脱氢酶缺乏症的分子特征分析

Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia.

作者信息

Al-Jaouni Soad K, Jarullah Jummanah, Azhar Essam, Moradkhani Kamran

机构信息

Hematology Research Lab, King Fahd Medical Research Centre, Faculty of Medicine, King Abdulaziz University, P,O, Box 80215, Jeddah 21589, Kingdom of Saudi Arabia.

出版信息

BMC Res Notes. 2011 Oct 24;4:436. doi: 10.1186/1756-0500-4-436.

DOI:10.1186/1756-0500-4-436
PMID:22018328
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3208249/
Abstract

BACKGROUND

The development of polymerase chain reaction (PCR)-based methods for the detection of known mutations has facilitated detecting specific red blood cell (RBC) enzyme deficiencies. We carried out a study on glucose-6-phosphate dehydrogenase (G6PD) deficient subjects in Jeddah to evaluate the molecular characteristics of this enzyme deficiency and the frequency of nucleotide1311 and IVS-XI-93 polymorphisms in the glucose-6-phosphate dehydrogenase gene.

RESULTS

A total of 1584 unrelated Saudis (984 neonates and 600 adults) were screened for glucose-6-phosphate dehydrogenase deficiency. The prevalence of glucose-6-phosphate dehydrogenase deficiency was 6.9% (n = 110). G6PD Mediterranean mutation was observed in 98 (89.1%) cases, G6PD Aures in 11 (10.0%) cases, and G6PD Chatham in 1 (0.9%) case. None of the samples showed G6PD A‾ mutation. Samples from 29 deficient subjects (25 males and 4 females) were examined for polymorphism. The association of two polymorphisms of exon/intron 11 (c.1311T/IVS-XI-93C) was observed in 14 (42.4%) of 33 chromosomes studied. This association was found in 9 (31.0%) carriers of G6PD Mediterranean and in 4 (13.8%) carriers of G6PD Aures.

CONCLUSIONS

The majority of mutations were G6PD Mediterranean, followed by G6PD Aures and < 1% G6PD Chatham. We conclude that 1311T is a frequent polymorphism in subjects with G6PD Mediterranean and Aures variants in Jeddah.

摘要

背景

基于聚合酶链反应（PCR）的已知突变检测方法的发展促进了对特定红细胞（RBC）酶缺乏症的检测。我们对吉达的葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症患者进行了一项研究，以评估这种酶缺乏症的分子特征以及葡萄糖-6-磷酸脱氢酶基因中核苷酸1311和IVS-XI-93多态性的频率。

结果

共对1584名无亲缘关系的沙特人（984名新生儿和600名成年人）进行了葡萄糖-6-磷酸脱氢酶缺乏症筛查。葡萄糖-6-磷酸脱氢酶缺乏症的患病率为6.9%（n = 110）。观察到98例（89.1%）为G6PD地中海突变，11例（10.0%）为G6PD奥雷斯突变，1例（0.9%）为G6PD查塔姆突变。所有样本均未显示G6PD A‾突变。对29名缺乏症患者（25名男性和4名女性）的样本进行了多态性检测。在所研究的33条染色体中，有14条（42.4%）观察到外显子/内含子11的两种多态性（c.1311T/IVS-XI-93C）的关联。在9例（31.0%）G6PD地中海突变携带者和4例（13.8%）G6PD奥雷斯突变携带者中发现了这种关联。

结论

大多数突变是G6PD地中海突变，其次是G6PD奥雷斯突变，G6PD查塔姆突变<1%。我们得出结论，在吉达，1311T是G6PD地中海和奥雷斯变体患者中常见的多态性。

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