Restriction fragment length polymorphism (RFLP) of the X chromosome linked glucose-6-phosphate dehydrogenase (G6PD) locus in India.
METHODS
Haplotypes linked to glucose-6-phosphate dehydrogenase (G6PD) genotypes were defined by studying six intragenic restriction fragment length polymorphisms (RFLPs) in 141 G6PD deficient and 252 normal chromosomes.


RESULTS
Only four of the 64 possible haplotypes were observed, indicating marked linkage disequilibrium. All the G6PD deficient mutations were associated with either haplotype I or VII, which are similar to the common G6PD B variant observed in the present study except the G6PD Namoru mutation which corresponded to mainly haplotype VIIa where a Nla III restriction site was created due to this mutation.


CONCLUSIONS
The limited number and low haplotype diversity probably indicates a strong selective pressure on the G6PD gene.
National Institute of Immunohaematology, K.E.M. Hospital Campus, Parel, Mumbai, India.
Rati
R
Chalvam
Roshan B
RB
Colah
Dipika
D
Mohanty
Kanjaksha
K
Ghosh
Malay B
MB
Mukherjee
D001483:Base Sequence; D041321:Chromosomes, Human, X; D005260:Female; D005787:Gene Frequency; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007194:India; D015810:Linkage Disequilibrium; D008297:Male; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012641:Selection, Genetic
D005954:Glucosephosphate Dehydrogenase