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1.
Indian J Hum Genet ; 1995 Jan; 1(1): 27-32
Article Dans Anglais | IMSEAR | ID: sea-159754

Résumé

G6PD 'Insuli', a fast moving electrophoretic variant is detected and biochemically characterised, first time in india in a Sunni Muslim family of Maharashtra. The enzyme kinetics and electrophoretic mobility of the variant are similar to Negro type A. As direct evidence for the Negro admixture in the population is lacking, the variant is considered new until further molecular evidence.

2.
Article Dans Anglais | IMSEAR | ID: sea-17960

Résumé

A new Indian G6PD variant was detected in a 15 yr old Maratha male during a population screening programme in high school children in Bombay (India). The propositus and two family members having the same variant were apparently healthy. This enzyme variant has a mild erythrocyte G6PD deficiency and a slow electrophoretic mobility. It is characterized by a high Michaelis-Menton constant for G6P, a bimodal curve for pH optima and a slight decrease in the thermostability. The rate of utilization of substrate analogue is similar to that of normal. These observations suggest identification of a new class III variant, designated as G6PD Rohini.


Sujets)
Adolescent , Adulte , Enfant , Électrophorèse sur gel d'amidon , Érythrocytes/enzymologie , Variation génétique , Glucose 6-phosphate dehydrogenase/génétique , Déficit en glucose-6-phosphate-déshydrogénase/enzymologie , Humains , Inde , Mâle , Dépistage de masse , Pedigree
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