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

Abstract   Papua New Guinea (PNG) mutation is a point mutation that occurs in noncoding region of alpha globin clusters. Polymorphism promotes an additional recognition site for transcription factor (GATA-1) which presumably downregulates alpha globin synthesis. The aim of this research is to detect PNG mutation in other populations in Indonesia, thus the results will be used for completing standard diagnoses in detecting alpha thalassemia 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 malaria prevalence in East Indonesia did not show a positive 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.     Abstrak   Deteksi Mutasi Papua Nugini (PNG) Thalassemia Alfa di Populasi Gayo, Sumba, Ternate, dan Timika. Mutasi PNG merupakan mutasi titik di luar gugus globin alfa. Polimorfisme menyebabkan terbentuknya promoter baru sebagai situs pengikatan faktor transkripsi GATA-1 yang diduga menurunkan laju transkripsi normal globin alfa. Tujuan dari penelitian ini adalah untuk mengetahui keberadaan mutasi PNG di populasi lain di Indonesia, sehingga hasil penelitian ini dapat digunakan untuk melengkapi standar diagnosis dalam mendeteksi mutasi penyebab thalassemia alfa berdasarkan latar belakang etnik. Teknik yang digunakan dalam mendeteksi mutasi PNG adalah PCR-RFLP. Hasil menunjukkan 18,1% (28 dari 154 sampel) positif pada populasi Timika, namun hasil negatif ditunjukkan pada semua sampel DNA populasi Gayo, Sumba, dan Ternate. Prevalensi malaria yang tinggi di wilayah Indonesia Timur tidak menunjukkan korelasi positif terhadap keberadaan mutasi PNG di populasi Sumba dan Ternate. Hasil penelitian menunjukkan bahwa mutasi PNG ditemukan hanya pada kelompok individu yang terinfeksi Plasmodium falciparum tetapi tidak pada kelompok individu yang terinfeksi Plasmodium vivax dan mutasi PNG juga ditemukan pada satu individu beretnik Ambon yang tinggal di Timika. &nbsp

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

AbstractPapua New Guinea (PNG) mutation is a point mutation that occurs in noncoding region of alpha globin clusters. Polymorphism promotes an additional recognition site for transcription factor (GATA-1) which presumably downregulates alpha globin synthesis. The aim of this research is to detect PNG mutation in other populations in Indonesia, thus the results will be used for completing standard diagnoses in detecting alpha thalassemia mutation based on ethnic background. The method used in detecting PNG mutation was PCR-RFLP. Detection of 399 samples (MCH5 hlm