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All Journal WMJ (Warmadewa Medical Journal) Makara Journal of Science Mitramas Jurnal Pengabdian dan Pemberdayaan Masyarakat Mitramas Jurnal Pengabdian dan Pemberdayaan Masyarakat
Ita M. Nainggolan
Lembaga Biologi Molekuler Eijkman dan Kementrian Riset, Teknologi dan Pendidikan Tinggi
Biochemistry, Genetics & Molecular Biology Education Health Professions Medicine & Pharmacology Public Health

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Journal : Makara Journal of Science

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Detection of Papua New Guinea Thalassemia Alpha Mutation in Gayo, Sumba, Ternate, and Timika Populations Nurfitriani, Risya; Abinawanto, Abinawanto; Noviyanti, Rintis; Trianti, Lely; Nainggolan, Ita M.
Makara Journal of Science Vol. 18, No. 2
Publisher : UI Scholars Hub

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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
Co-Authors Abinawanto Abinawanto Agung Nova Mahendra Anak Agung Dewi Megawati, Anak Agung Dewi Andrian, Dhea Agatha Aprilia, Andrea Bororing, Sheella Rima Eva A. Maharani Nanis S. Marzuki, Nanis S. Noviyanti, Rintis Nurfitriani, Risya Trianti, Lely Yuyun S.M. Soedarmono