Basic research Detection of 1311 polymorphism in the glucose-6-phosphate dehydrogenase gene by microarray technique Sule Menziletoglu Yildiz1, Sedefgul Yuzbasioglu Ariyurek2, Murat Tahiroglu2, Kiymet Aksoy2 1Cukurova University, Vocational School of Health Services, Adana, Turkey 2Cukurova University, Faculty, of Medicine, Department of Biochemistry, Adana, Turkey Submitted: 31 May 2011 Accepted: 11 August 2011 Arch Med Sci 2011; 7, 4: 586-591 DOI: 10.5114/aoms.2011.24126 Copyright © 2011 Termedia & Banach A b s t r a c t Introduction: Nucleotide 1311 polymorphism at exon 11 of the glucose-6- phosphate dehydrogenase (G6PD) gene is fairly common in various populations worldwide, especially among Mediterranean populations. In this study, 1311 poly- morphism in G6PD-deficient cases was identified by microarray technique. Material and methods: Four hundred and fifty clinically healthy subjects were screened and 32 cases were found to have G6PD deficiency (7.11%). Our analysis of genomic DNA samples from 32 G6PD-deficient individuals revealed that the number and percentage of subjects who had a C-to-T alteration at nucleotide 1311 were 21 and 4.7% respectively. Given that the frequency of 1311 poly- morphism has been reported in previous studies to be fairly high among G6PD-deficient people with the Mediterranean mutation, our data seem to be inconsistent with what we would expect for this particular region. Results: The highly diverse ethnic background of the Adana population which probably results from the high level of immigration into this part of Turkey may be one of the most sensible explanations for this unexpected finding. Nevertheless, it seems that our results need to be confirmed in larger studies. Conclusions: The polymorphism studies in the G6PD gene may help us to illuminate the genetic basis of the G6PD deficiency in different regions and in various ethnic groups, and also to discover the influence of a specific polymorphism on the clinical course of the deficiency. Key words: 1311 polymorphism, G6PD deficiency, microarray technique. Introduction Glucose-6-phosphate dehydrogenase (G6PD) enzyme is encoded by the G6PD gene, which is localized on the X chromosome (Xq28), spans over 18 kb, and is composed of 13 exons and 12 introns [1]. The G6PD is expressed in all cells and is responsible for the first reaction of the pentose phosphate pathway in which glucose-6-phosphate is oxidized to 6-phosphogluconolactone with concomitant production of NADPH [2]. Approximately 150 mutations in the G6PD gene have been documented so far, most of them being single-base substitutions leading to amino acid replacements [3]. The G6PD deficiency, inherited as an X-linked disorder, is the most common enzymopathy that produces disease affecting nearly 400 million people worldwide [4]. With more than 300 reported variants, the disease is highly polymorphic. Furthermore, it has been shown to provide protection against malaria, which probably explains its high frequency in some geographical regions [5]. Indeed, G6PD deficiency occurs Corresponding author: Sule Menziletoglu Yildiz PhD Cukurova University Vocational School of Health Services Adana, Turkey Phone: +90.322.338 65 38 Fax: +90.322.338 65 39 E-mail: syildiz@cu.edu.tr, suleyildiz01@yahoo.com