title: Population study of 1311 C/T polymorphism of Glucose 6 Phosphate Dehydrogenase gene in Pakistan - an analysis of 715 X-chromosomes.
abstract: 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 130 of normal 402 X-chromosomes (gene frequency of 0.32).
  
  
  CONCLUSIONS
  We conclude that 1311 T is a frequent polymorphism both in general populations and in subjects with G6PD Mediterranean gene in Pakistan. The prevalence is higher compared to most of the populations of the world. The present study will help in understanding genetic basis of G6PD deficiency in Pakistani population and in developing ancestral links of its various ethnic groups.
authors.affiliation: Department of Pathology and Microbiology, Aga Khan University, Karachi, Pakistan. bushra.moiz@aku.edu
authors.forename: Bushra
authors.initials: B
authors.lastname: Moiz
authors.forename: Amna
authors.initials: A
authors.lastname: Nasir
authors.forename: Tariq
authors.initials: T
authors.lastname: Moatter
authors.forename: Zulfiqar Ali
authors.initials: ZA
authors.lastname: Naqvi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Khurshid
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics*; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics; D006801:Humans; D008297:Male; D010154:Pakistan; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
chemical_list: D005954:Glucosephosphate Dehydrogenase