Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 1 of 1
Full-Text Articles in Medicine and Health Sciences
Population Study Of 1311 C/T Polymorphism Of Glucose 6 Phosphate Dehydrogenase Gene In Pakistan - An Analysis Of 715 X-Chromosomes., Bushra Moiz, Amna Nasir, Tariq Moatter, Zulfiqar Ali Naqvi, Mohammad Khurshid
Population Study Of 1311 C/T Polymorphism Of Glucose 6 Phosphate Dehydrogenase Gene In Pakistan - An Analysis Of 715 X-Chromosomes., Bushra Moiz, Amna Nasir, Tariq Moatter, Zulfiqar Ali Naqvi, Mohammad Khurshid
Department of Pathology and Laboratory Medicine
Background:Nucleotide 1311 polymorphism at exon 11 of G6PD gene is widely prevalent in various populations of the world. The aim of the study was to evaluate 1311 polymorphism in subjects carrying G6PD Mediterranean gene and in general population living in Pakistan.
Results:
Patients already known to be G6PD deficient were tested for 563C-T (G6PD Mediterranean) and 1311 C-T mutation through RFLP based PCR and gene sequencing. A control group not known to be G6PD deficient was tested for 1311C/T only.C-T transition at nt 1311 was detected in 60/234 X-chromosomes with 563 C-T mutation (gene frequency of 0.26) while in …