title: Frequency of the G6PD nt 1311 C/T polymorphism in English and Iranian populations: relevance to studies of X chromosome inactivation.
abstract: X chromosome inactivation is widely studied using DNA sequence polymorphisms and DNA methylation as a surrogate measure of inactivation, but the correlation of methylation with inactivation is not perfect. Thus, it may be better to study sequence polymorphisms expressed in the mRNA. A recent paper reported use of a silent C/T polymorphism at nt 1311 of the G6PD cDNA, and this polymorphism was reported to have a frequency of 40% in all ethnic groups. We have screened 218 English and 50 Iranian subjects by PCR and restriction digestion; 53/218 (24%) British and 22/50 (44%) Iranian subjects were heterozygous. Thus, X inactivation studies using this polymorphism may be useful in some populations, including Iran, but much less so in the UK.
authors.affiliation: Division of Haematology, St George's Hospital Medical School, London, UK.
authors.forename: Y
authors.initials: Y
authors.lastname: Mortazavi
authors.forename: R
authors.initials: R
authors.lastname: Chopra
authors.forename: E C
authors.initials: EC
authors.lastname: Gordon-Smith
authors.forename: T R
authors.initials: TR
authors.lastname: Rutherford
mesh_terms: D004303:Dosage Compensation, Genetic; D004739:England / Q000208:ethnology; D005006:Ethnicity; D005260:Female; D006801:Humans; D007492:Iran / Q000208:ethnology; D011110:Polymorphism, Genetic; D014960:X Chromosome