| Autor: |
Sirdah, Mahmoud, Perkins, Sherrie L, Shubair, Mohammad E., Aboud, Lina, Prchal, Josef T |
| Rok vydání: |
2012 |
| Předmět: |
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| Popis: |
Background The G6PD c.563 C > T deficient mutation is endemic among Mediterranean populations but its clinical significance is not well delineated. We set up to estimate the proportion of G6PD deficient children presenting with hemolytic anemia at Al Nasser Pediatric Hospital at Gaza Strip, Palestine. We then established the prevalence of c.563T Mediterranean mutation and its linkage to c.1311 C > T polymorphism in this population. Design and Methods G6PD deficiency was identified in children presenting with hemolytic anemia at Al Nasser Pediatric Hospital by spectrophotometric measurement of G6PD activity. G6PD exon 6 and exon 11 were amplified from genomic DNA and evaluated for c.563T mutation by sequencing and the c.1311T polymorphism by restriction fragment analysis. Seventy X-chromosomes (60 males and 5 females) from G6PD deficient patients and 40 X-chromosomes from a control … |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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