Two distinct Indian G6PD variants G6PD Jamnagar and G6PD Rohini caused by the same 949 G-->A mutation.
Earlier we have reported two G6PD variants viz.; G6PD Jamnagar and G6PD Rohini. The enzymes from both the variants showed altered biochemical properties with mild enzyme deficiency and were classified as unique Class III variants. G6PD Jamnagar was found to be associated with drug-induced hemolytic anemia whereas G6PD Rohini was picked up during a population survey. Subsequent molecular studies on the DNA from both the cases showed the presence of the Kerala-Kalyan (949 G-->A) mutation. Hence, this study besides supporting the fact that biochemically distinct variants could have the same mutation at the molecular level also highlights the importance of molecular characterization of G6PD variants.
Institute of Immunohaematology (ICMR), 13th floor, New Multistoryed Building, KEM Hospital Campus, Parel, Mumbai 400 012, India.
Sridevi
S
Sukumar
Malay B
MB
Mukherjee
Roshan B
RB
Colah
Dipika
D
Mohanty
D000293:Adolescent; D000743:Anemia, Hemolytic / Q000139:chemically induced; D004586:Electrophoresis; D004795:Enzyme Stability; D014644:Genetic Variation / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry* / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000145:classification* / Q000235:genetics; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007194:India; D007700:Kinetics; D008297:Male; D008875:Middle Aged; D017354:Point Mutation
D005954:Glucosephosphate Dehydrogenase; C507401:glucose-6-phosphate dehydrogenase Jamnagar, human