Detection of 1311 polymorphism in the glucose-6-phosphate dehydrogenase gene by microarray technique

Abstract

IntroductionNucleotide 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 polymorphism in G6PD-deficient cases was identified by microarray technique.Material and methodsFour 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 polymorphism 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.ResultsThe 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.ConclusionsThe 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.

Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype–phenotype association throughout an activity distribution

“…Nucleotide position 1311(C>T) was regarded as a silent polymorphism, and could not result in the substitution at the amino acid level. The c.1311C>T polymorphism was widely detected among the G6PD deficient and normal population with various frequencies 15 , 22 , 23 . The prevalence of c.1311C>T in this study was similar to that in most of the previous studies 15 , 23 .…”

Mardin İli ve Çevresinde Serum Glukoz-6-Fosfat Dehidrogenaz Enzim Düzeyi Eksikliğinin Araştırılması

“…In this study, Özlü found the frequency of G6PD deficiency to be 3% in male infants (15). In another study conducted in the Çukurova region by Menziletoglu Yildiz et al, they found the frequency of G6PD deficiency to be 7.11% in 450 healthy individuals (16). In a study conducted with 1421 healthy individuals living in Balıkesir and Çanakkale, the frequency of G6PD deficiency was found to be 7.24% in female, 6.2% in male, and 6.9% in all cases (17).…”