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

Authors

Risya Nurfitriani, Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok 16424, Indonesia
Abinawanto Abinawanto, Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok 16424, IndonesiaFollow
Rintis Noviyanti, Laboratory of Red Blood Cell Disorders, Lembaga Biologi Molekuler Eijkman, Jakarta 10430, Indonesia
Lely Trianti, Laboratory of Red Blood Cell Disorders, Lembaga Biologi Molekuler Eijkman, Jakarta 10430, Indonesia
Ita M. Nainggolan

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

References

[1] G. Stamatoyannopoulos, A.W. Nienhuis, P.W. Majerus, H. Varmus, The Molecular Basis of Blood Diseases, 3rd ed., W.B. Saunders Company, Philadelphia, 1994, p.331. [2] I. Setianingsih, A. Harahap, I.M. Nainggolan, In: S. Marzuki, J. Verhoef, H. Snippe (Eds.), Advances in Experimental Medicine and Biology, Tropical Diseases, Kluwer Academic/Plenum Publishers, New York, 2003, p.531. [3] S.B. McKenzie, J.L. Williams. Clinical Laboratory Hematology, 2nd ed., Prentice Hall, Upper Saddle River, New Jersey, 2010, p.1080. [4] C.L. Harteveld, D.R. Higs, Orphanet J. Rare Dis. 5 (2010) 6. [5] I. Wahidiyat, P.A. Wahidiyat, Pediatrica Indonesiana. 46 (2006) 190. [6] P. Lio, N. Goldman, Genom Res. 8 (1998) 1233. [7] R. Galanello, A. Cao, Gene Reviews. 25 (2008) 28. [8] D. Provan, J.G. Gribben, Molecular Hematology, 3 rd ed., John Willey & Sons, Ltd., London, 2010, 425. [9] M. Gobbi, V. Viprakasit, J.R Hughes, C. Fisher, V.J Buckle, H. Ayyub, R.J. Gibbons, D. Vernimmen, Y. Yoshinaga, P. Jong, J.F. Cheng, E.M. Rubin, W.G. Wood, D. Browden, D.R. Higgs, Science Mag. 312 (2006) 1216. [10] I. Nainggolan, A. Harahap, D.D. Ambarwati, R.V. Liliani, D. Megawati, M. Swastika, I. Setianingsih, Hemoglobin. 10 (2012) 2 [In Indonesia]. [11] N. Djunaidi, Deteksi Mutasi GATA-1 Papua Nugini Thalassemia Alfa Populasi Sulawesi Selatan, Universitas Katolik Indonesia Atmajaya, Indonesia, 2008 [In Indonesia]. [12] I.R.F. Elyazar, S.I. Hay, J.K. Baird, Adv. Parasitol. 74 (2011) 47. [13] V.R.R. Mendonca, M.S. Goncalves, M.B. Netto. J. Trop. Med. 17 (2012) 3. [14] B. Marcus, Malaria Deadly Diseases and Epidemics, 2nd ed., Infobase Publishing, New York, 2009, p.120. [15] K. Pattanapanyasat, K. Yongvanitchit, P. Tongtawe, K. Tachavanich, W. Wanachiwanawin, S. Fucharoen, D.G. Walsh, Blood. 93 (1993) 3118. [16] N. Minakawa, G. Sonye, M. Mogi, G. Yan, Med. Vet. Entomol. 18 (2004) 303. [17] C.E. Tosta, Mem. Inst. Oswaldo Cruz. 102/3 (2007) 385. [18] K.L. Heckman, C.L. Mariani, R. Rasoloarison, A.D. Yoder, Mol. Phylogenet Evol. 43 (2007) 353. [19] R. Leimu, M. Fischer, Plos One. 5 (2010) 3. [20] S. Oppenheimer, M. Richards, Sci. Progress. 84 (2011) 157. [21] M. Kayser, S. Brauer, R. Cordaux, A. Casto, O. Lao, L.A. Zhivotosky, C.M. Faurie, R.B. Rutledge, W. Schiefenhoevel, D. Gil, A.A. Lin, P.A. Underhill, P.J. Oefner, R.J. Trent, M. Stoneking, Mol. Biol. Evol. 23 (2006) 2234. [22] P. Kusuma, Thesis, Faculty of Medicine, Universitas Indonesia, Indonesia, 2013 [In Indonesia].

Recommended Citation

Nurfitriani, Risya; Abinawanto, Abinawanto; Noviyanti, Rintis; Trianti, Lely; and Nainggolan, Ita M. (2014) "Detection of Papua New Guinea Thalassemia Alpha Mutation in Gayo, Sumba, Ternate, and Timika Populations," Makara Journal of Science: Vol. 18: Iss. 2, Article 8.
DOI: 10.7454/mss.v18i2.3138
Available at: https://scholarhub.ui.ac.id/science/vol18/iss2/8