Rina Budi Satiyarti, Rindu Anggita


Mitochondrial DNA (mtDNA) has an unique genetic sequences which made its different from nuclear DNA. MtDNA is maternally inherited without recombination, and it has higher mutation rate rather than nuclear DNA. D-loop is an noncoding area in mtDNA which has highest polymorphism among mtDNA. The objective of this research is to study about nucleotide variation in D-Loop area from people who has endogamy marriage. The subject is four generation of maternally inherited. The research steps are sample collection, DNA template preparation, mtDNA amplification, agarose gel electrophoresis, sequencing analysis and homology analysis. The amplification of D-Loop fragment has 0,9 kb in size. Homology analysis showed fifty varians nucleotides. 


Mitochondrial DNA (mtDNA), D-loop, nucleotides variation


Anderson, S., Bankier, A. T., Barrel, B.G., de Brujin, M.H., Coulson, A.R., Drouin, J., Eperon, I.C., Nierlich, D.P., Roe, B.A., Sanger, F., Schreier, P.H., Smith, A.J., Staden, R., and Young, I.G. 1981. Sequence and Organizatiom of the Human Mitokondrial Genome.Nature. 290, 457-465.

Andrews, R.M., Kubacka I, Chinnery PF, Lightowlers R.N., Turnbull D.M., and Howell N. 1999. Reanalysts and revision of the cambridge reference sequence for human mitchondrial DNA. Nat Genet. 23: 147.

Barnes, M.W. 1994. PCR amplification of up to 35-kb DNA with high fidelity and high yield from λ bacteriophage templates, proc. Natl. Acad.Sci.USA, 91, 2216-2220

Bodmer, WF., Cavalli-Sforza LL, 1976. Genetics, Evolution and Man. San Fransisco;WH Freeman and Company

Chen, X., Prosser, R., Simonetti, S., Sadlock, J., Jagiello, G., Schon, E.A.1995.Rearranged Mitochondrial Genomes are Present in Human Oocytes. Am. J. Hum. Genet. 57, 239-247.

Cheng, S., Fockler, C.,Barnes, M.W., and Higuchi, R. 1994. Effective amplification of long target from cloned inserts and human genomicDNA, Proc. Natl.Acad.Sci.USA, 91, 5695-5699

Cheng, S., Kolmodulin, L.A. 1997. XL PCR amplification of long targets from genomic DNA, Methods in Molecular Biology : PCR Cloning Protocols,edited by Bruce A. White, 67, Humana Press, Totowa, New Jersey, 17-29

Clayton, D.A. 1991. Nuclear godgets in Mitochondrial DNA Replication and Transcription. Foends. Biol. Sci. 16: 107-111

Cole, A.S., Eastol, J.E. 1978. Biochemistry and oral biology. Toppan Co. Ltd.. Singapore.

Czarnecka, A.M., Golik, P., and Bartnik, E. 2006. Mitochondrial DNA mutations in human neoplasia. J Appl Genet. 47, (1), 67-78.

Grzybowski, T. 2000. Extremely High Levels of Human Mitochondrial DNA Heteroplasmy in Single Hair Roots.Electrophoresis.2f, 548-553

Gumilar, G., Ridha, I.L., dan Heli, S.M. 2013.Profil Genetik Daerah Hipervariabel I (HVI) DNA Mitokondria pada Populasi Dataran Tinggi. Jurnal Sains dan Teknologi Kimia. Vol. 4 No. 2. Hal. 184-191. ISSN 2087-7412.

Handt, O., S. Meyer, A. Von H. 1998. Compilation of Human mtDNA Control Region Sequences. Nucleic Acids Research. 26, (1), 126-129.

Hiroaki, N., et. al. 2006. Hypervariable region structure and polymorphism of mtDNA. Journal of Oral Science. 48 . (3) , 145-152

Klug, W. S., Cummings, M. R. 1994. Concepts of genetics. 4th ed. Prentice Hall,Englewood cliffs.

Koolman, J., Klaus-Heinrich, R. 2005. Color Atlas of Biochemistry. Edisi Kelima. Germany: Georg Thieme Verlag.

Lim, S.L., Mah, M., Khai, A., Badrul, and M. Md. Z. 2010. Mitochondrial DNA Polymorphism abd Phylogenetic Relationships of Proto Malays in Peninsular Malaysia. Journal of Biological Sciences. 10(2), 71-83.

Maksum, I. P. 2003. Tiga Mutasi Substitusi Spesifik Daerah D-loop DNA Mitokondria yang Lestari Pada Tujuh Generasi Segaris Keturunan Ibu Manusia Indonesia. Perpustakaan digital ITB (online). http://digilib.itb.ac.id/ diakses tanggal 20 Oktober 2016.

Malik, S., Sudoyo H, Pramoonjago P, Sukarna T. Darwis D, dan Marzuki S. 2002. Evidence For The De Novo Regeneration of The Pattern of The Length Heteroplasmy Associated With The T16189C Variant In The Control (D-Loop) Region Of Mitchondrial DNA. J Hum Genet 47: 122-130.

Newton, C.R. and Graham, A. 1997. PCR. 2nd edition. BIOS Scientific Publishers Limited. England.

Ngili, Y. 2003. Mengenal DNA Mitokondria dan Aplikasinya. Kompas. 4 November 2003.

Noer, A.S., Martasih, F., Mulyani, S., Muktiningsih, Wirahadikusumah. 1994. Analisis Variasi Urutan Nukleotida D-loop MtDNA Manusia dari Beberapa Daerah di Indonesia. Prosiding Seminar Bersama Universitas Kebangsaan Malaysia-ITB Pertama. Bandung. 201-214.

Noer, A.S. dan Gustiananda, M. 1997.PCR Tanpa Isolasi DNA dari Sel Epitel Rongga Mulut. JMS Vol. 2 No. 1, hal. 35 – 45.

Palit, E. I. Y., dan Yohanis N. 2016. Kuantifikasi dan Filogenetika Mutasi DNA. Innosain. Yogyakarta.

Poedjiadi, A., dan Supriyanti, F. M. T. 2005. Dasar-Dasar Biokimia (edisi revisi). Jakarta: UI Press

Puspitawati Ria. 2003. Struktur Makroskopik dan Mikroskopik Jaringan Lunak Mulut. Jurnal Kedokteran Gigi Universitas Indonesia;10 (Edisi Khusus) : 462-467.

Ratnayani, K., I Nengah Wirajana, dan A.A.I.A.M Laksmiwati. 2007. Analisis Variasi Nukleotida Daerah D-loop DNA Mitokondria Pada Satu Individu Suku Bali Normal. Jurnal Kimia 1 (1). Hal. 7-14. ISSN 1907-9850.

Sanger, F., Nicklen, S., and Coulson, A.R. 1977. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. 74: 5463-5467.

Shadel, G.S. and D.A. Clayton. 1997. Mitochondrial DNA maintenance in vertebrata. Annual Review of Biochemistry 66: 409-435.

Siti, H. H., Gun, G.G., Dessy, N., dan Achmad, S.N. 2007. Variasi Urutan Nukleotida Daerah D-Loop DNA Mitokondria Manusia pada Dua Populasi Asli Indonesia Tenggara. Makalah pada Seminar Nasional Kimia Universitas Negeri Surabaya. Surabaya.

Stanfield, W. D., Jaime S. C., Raul J. C. 1996.Molecular and Cell Biology. McGraw-Hill, New York

Stinson S, Bogin B, Hush-Ashmore R, O’Rourke D, 2000. Human Biology, An

Evolutionary and Biocultural Perspective. New York : Willey-Liss, pp. 4-7

Sunarto, K. 2004. Pengantar Sosiologi. Jakarta: Penerbit Fakultas Ekonomi Universitas Indonesia.

Suryadi, H., Malik, S. G., Gustiananda, M.,Sudoyo, H., 2003.Polimorfisme DNA Mitokondria dan Kedokteran Forensik, dalam Mithocondrial Medicine. Lembaga Biologi molekuler Eijkman. Jakarta. p. 53-56.

Syukriani, Y. 2012. DNA Forensik. PT Sagung Jakarta.

Thompson, R. & B. Fritchman. Illustrated guide to home biology experiments: All lab, no lecture. California, O’Reilly Media Inc. : xv + 358 hlm

Tully, L. A., Steighner, R. J., Parsons, T. J., Holland, M. M., Prenger, V. L., Marino, M. A. 1999. A High Incidence of Mitochondrial DNA Heteroplasmy in Hypervariable I in Normal Human Tissues: Implications for Forensic Casework.16, 561-565

Wallace DC, Stugard C, Murdock D, Schurr T, and Brown MD. 1997. Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations. Proceedings of the National Academy of Sciences of the United States of America. 94(26):14900–14905.

Watson, J. D., Hopkins, N. H., Roberts, J. W., Steitz, J. A., and Weiner, A. M. 1987. Molecular Biology of the Gene. fourth edition. The Benjamin/Cummings Publishing Co., Inc. Menlo Park, California.

Wilson, B., Teslow, J., and Osman-Jourchoux, R. 1995. The impact of constructivism (and postmodernism) on instructional design fundamentals. In Seels, B. B. (Ed.), Instructional Design Fundamentals – A review and reconsideration, New Jersey: Educational Technology Publications, 137-157.

Yudianto, A., dan Indah N. M. 2012. Variasi Nukleotida Lokus 126 pb Daerah D-loop DNA Mitokondria (mtDNA) pada Individu Segaris Keturunan Ibu. Indonesian Journal of Legal and Forensic Science 2012; 2 (3): 61-65.

Yuwono, T., 2006. Teori dan Aplikasi Polymerase Chain Reaction. Penerbit Andi. Yogyakarta. p. 1-3; 18-21

Zyskind, J. W. and S. I. Bernstain. 1992. Recombinant DNA Manual. Academic Press, Inc. California

DOI: https://doi.org/10.24042/biosf.v9i1.2883

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