PT  - JOURNAL ARTICLE
AU  - Mortazavi, Y
AU  - Chopra, R
AU  - Gordon-Smith, E C
AU  - Rutherford, T R
TI  - Frequency of the G6PD nt 1311 C/T polymorphism in English and Iranian populations: relevance to studies of X chromosome inactivation.
AID  - 10.1136/jmg.34.12.1028
DP  - 1997 Dec 01
TA  - Journal of Medical Genetics
PG  - 1028--1029
VI  - 34
IP  - 12
4099  - http://jmg.bmj.com/content/34/12/1028.short
4100  - http://jmg.bmj.com/content/34/12/1028.full
SO  - J Med Genet1997 Dec 01; 34
AB  - 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.