Detection of Papua New Guinea Thalassemia Alpha Mutation in Gayo, Sumba, Ternate, and Timika Populations

Papua New Guinea (PNG) mutation is a point mutation that occurs in noncoding region of alpha globin cl usters. Polymorphism promotes an additional recognition site for transcription factor (GATA-1) which presumabl y downregulates alpha globin synthesis. The aim of th is research is to detect PNG mutation in other popu lations in Indonesia, thus the results will be used for comple ting standard diagnoses in detecting alpha thalasse mia mutation based on ethnic background. The method used in detecting PNG mutation was PCR-RFLP. Detection of 399 samples (MCH <80 fL) using the PCR-RFLP method showed positive results for the Timika population. However, negative results were found in the Gayo, Sumba, and Ternate populations. PNG mutation frequency in the Timika (Papuan ethnic) population is 18.1% (28 of 154 samples). High malar ia prevalence in East Indonesia did not show a posi tive correlation with the absence of PNG mutation in the Sumba and Ternate populations. The results showed that PNG mutation is only found groups that are infected with Plasmodium falciparum malaria, but not in Plasmodium vivax -infected ones. However, PNG mutation is common in the eastern Indonesia population.