Molecular characterization of glucose-6-phosphate dehydrogenase deficiency among Jordanians
| Autor: | Nor Awwad, Suleimman A. Al-Sweedan |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Adolescent Genotype Dehydrogenase Biology Glucosephosphate Dehydrogenase Polymorphism Single Nucleotide Polymorphism (computer science) medicine Humans Child Genetics Jordan Incidence (epidemiology) Infant Newborn Infant Hematology General Medicine Exons medicine.disease Molecular biology Phenotype Introns Glucosephosphate Dehydrogenase Deficiency Child Preschool Female Glucose-6-phosphate dehydrogenase deficiency |
| Zdroj: | Acta haematologica. 128(4) |
| ISSN: | 1421-9662 |
| Popis: | In Jordan, glucose-6-phosphate dehydrogenase (G6PD) deficiency is a significant health problem, and the incidence was reported to be about 3.6%. The aims of this study are to investigate the most common molecular mutations of the G6PD gene among Jordanians in northern Jordan and to examine the correlation between the genotype and phenotype of this enzyme deficiency.Seventy-five blood samples were collected from patients attending King Abdullah University Hospital and Princess Rahma Teaching Hospital. The G6PD gene was scanned for mutations using a DNA sequencing technique.Our results showed 11 variations (7 exonic and 4 intronic) as follows: c.202 GA (rs1050828), c.376 AG (rs1050829), c.404 AC (CM962574 single-nucleotide polymorphism), c.542 AT (rs5030872), c.563 CT (rs5030868), c.1003 GA (rs5030869), c.1311 CT (rs2230037), c.486-90 CT, c.486-60 CG (rs2515904), c.770+175 CT (rs2515905) and c.1311 CT (rs2230037). Among these, G6PD Mediterranean (c.563 CT) was the most common in our patients, with a frequency of 76.2%, followed by G6PD A- (c.202 GA + c.376 AG) with 19%, and an equal frequency of 1.6% was found for G6PD Chatham (c.1003 GA), G6PD Santamaria (c.542 AT + c.376 AG) and G6PD Cairo (c.404 AC).This is the first report of G6PD Santamaria and Cairo among our Jordanian population. |
| Databáze: | OpenAIRE |
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