DNA samples from 206 unrelated Kuwaitis of both sexes, i.e. 200 randomly selected individuals and 6 glucose-6-phosphate-dehydrogenase (G6PD)-deficient probands, have been analyzed by the PCR/RFLP technique for mutations underlying the most common G6PD-deficient variants (Mediterranean and A-). At the first step all samples were studied for the 563C-->T and 376A-->G mutations, then the samples positive for 376A-->G were further analyzed for 202G-->A, 680G-->T and 968T-->C mutations. Three mutations (563C-->T, 376A-->G and 202G-->A) were found to be present in the Kuwaiti population at polymorphic frequencies (0.0503, 0.0215 and 0.0111, respectively). Nineteen out of 20 unrelated Kuwaiti chromosomes with 563C-->T had Mediterranean haplotype as judged by 1311C-->T polymorphism. The frequency of G6PD-deficient genotypes was 4.5% (5.73% in males and 2.56% in females).
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http://dx.doi.org/10.1159/000022838 | DOI Listing |
Am J Hematol
February 2012
AP-HP, Hôpital H. Mondor-A. Chenevier, Service de Biochimie et Génétique, Créteil 94000, France.
We present a rapid strategy based on Restriction Fragment Length Polymorphism (RFLP) analysis to characterize the more frequent glucose 6-phosphate dehydrogenase (G6PD) variants observed in a population with high gene flow. During a study involving more than 600 patients, we observed mainly G6PD A(-) (c.202G>A, c.
View Article and Find Full Text PDFArch Pathol Lab Med
September 2005
Department of Medical Laboratory Sciences, Kuwait University, Sulaibekhat, Kuwait.
Context: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human enzyme deficiencies. More than 130 different molecular abnormalities have been described worldwide, with considerable variation in the enzyme among various racial groups. Data from Kuwaiti populations are scarce, and the studies available are the result of screening male blood donors who may not be truly representative of the Kuwaiti population.
View Article and Find Full Text PDFDNA samples from 206 unrelated Kuwaitis of both sexes, i.e. 200 randomly selected individuals and 6 glucose-6-phosphate-dehydrogenase (G6PD)-deficient probands, have been analyzed by the PCR/RFLP technique for mutations underlying the most common G6PD-deficient variants (Mediterranean and A-).
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