Revista chilena de pediatría
versión impresa ISSN 0370-4106
DAL BORGO A, Patricia; ROSARIO, Silva C y CAVIERES A, Mirta. Two new glucose 6 phospho-dehydrogenase mutations, G6PD Santiago and G6PD Calvo Mackenna. Rev. chil. pediatr. [online]. 2000, vol.71, n.5, pp. 419-422. ISSN 0370-4106. http://dx.doi.org/10.4067/S0370-41062000000500007.
Two undescribed mutations that produce G6PD deficiency in Chilean boys are documented. Both occurred in patients with hereditary non-spherocytic haemolytic anaemia. G6PD Santiago was due to an Arg-Pro change at amino acid 198 because of a C transition at nucleotide 593. G6PD Calvo Mackenna was due to a A-G transition at nucleotide 1138 resulting in a substitution of valine for isoleucine at amino acid 380. The studies were carried out in the Scripps Research Institute in La Jolla, California, USA by courtesy of Dr. Ernest Beutler
Palabras clave : G6PD; glucose 6 phosphate dehydrogenase; hemolytic anemia; mutation; enzyme.