Karakterisasi Molekuler Defisiensi Enzim Glukosa-6-Fosfat Dehidrogenase di Kabupaten Sumba Tengah Nusa Tenggara Timur, Indonesia

Abstract

Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive hereditary disease characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (G6PD), the rate limiting enzyme in the pentose phosphate pathway that is important in red blood cell metabolism and the most common human enzyme defect. This research was aim to characterize and model the most common G6PD variants in Central Sumba’s people in order to help Indonesian goverment to design malaria treatment. Methodologies employed included nested PCR, gel electrophoresis purification, primer walking sequencing, and sequence alignment using BLAST. The most common G6PD variant were Vanua lava changing Leu to Pro at position 128 and Viangchan with Val changed to Met at position 291. From Pymol viewer software, substitution in Vanua Lava variant from 128Leu to 128Pro cause the instability of the helices while Viangchan substitution location was in tetrameric interface.