HETEROPLASMI DNA MITOKONDRIA MANUSIA

Daftar Pustaka
Anderson, S., Bankier, A. T., Barrel, B. G., de Bruijn, M. H. L., Coulson, A. R., Droujin, J.,
Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden,
R., Young, I. G., (1981), Sequence and Organization of The Human Mitochondrial Genome,
Nature, 290 (5806), 457-465.
Bendall, K. E., dan Sykes, B. C., (1995), Length Heteroplasmy in the First Hypervariable
Segment of the Human mtDNA Control Region, Am. J. Hum. Genet. 57 hal 248.
Bogenhagen, D.F., (1999), Repair of MtDNA in Vertebrates, Am. J. Hum. Genet. 64, 12761281.
Brandon, M.C., Lott, M.T., Nguyen, K.C., Spolim, S., Navathe, S.B., Baldi, P., Wallace,
D.C. (2005), MITOMAP: A Human Mitochondrial Genome Database--2004 Update.
Nucleic Acids Research 33 (Database Issue):D611-613. URL: http://www.mitomap.org,
tanggal akses: 16/08/07.
Brown, W.M., (1980), Polymorphism in Mitochondrial DNA of Humans as Revealed by
Restriction Endonuclease Analysis, Proc. Natl. Acad. Sci. USA, 77, 3605-3609.
Browning, K.S., RajBhandary, U.L., (1982), Cytochrome Oxidase Subunit III Gene in
Neurospora Crassa Mitochondrial: Location and Sequence, J. Biol. Chem., 157, 5253-5256.
Cann, R.L., Brown, W.M., Wilson, A.C., (1982), Evolution of Human Mitochondrial DNA:
A Preliminary Report. In Bonne Tamir, B., Cohen P., Goodman, R.N.(eds), Human
Genetics, Part A: The unfolding Genome, Alan R. Liss, New York, 157-166.
Cann, R.L., Stoneking, M., Wilson, A.C., (1987), Mithocondrial DNA and Human
Evolution, Nature, 325, 243-247.
Chamberlain, J.S., Gibbs, R.A., Ranier, J.A., dan Caskey, C.T., (1990). Multiplex PCR for
The diagnosis of Duchenne Muscular Dystrophy, didalam PCR protocols a guide to methods
and applications, Academic Press, Inc. San Diego, California, USA.
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.
38
Chesser, Ronald K., (1998), Heteroplasmy and Organelle Gene Dynamics, Am. J. Hum.
Genet. 150, 1309-1327.
Childs, G.V., (1998), The Mitochondrial Life Cycle, University of Texas Medical
Branch, http://cellbio.utmb.edu/microanatomy, tanggal akses: 16/07/07.
Cole, A.S., dan Eastoe, J.E., (1977), Biochemistry and Oral Biology, Toppan Co Ltd., Japan.
Coon, C.S., (1966), The Living Race of Man., Jonathan Cape, London.
Cooper, G.M. (2000), The Cell: A Molecular Approach, 2nd edition, ASM Press, USA.
Davidson, M.W., (2007), Molecular Expressions: Cell Biology and Microscopy Structure
and Function of Cells & Viruses, The Florida State University,
Dwiyanti, F., (2006), Heteroplasmi DNA Mitokondria Manusia, Tesis Magister, Institut
Teknologi Bandung, Bandung.
Fawcett, (1994), A Textbook of Histology, 12th edition, Chapman and Hall, USA.
Finnilä, S., (2000), Phylogenetic Analysis of Mitochondrial DNA: Detection of Mutations in
Patients with Occipital Stroke, Department of Neurology of Oulu University,
http://herkules.oulu.fi/isbn9514255674/html/c262.html, tanggal akses: 04/01/07.
Fox, T. D., (1987), Natural Variation in The Genetic Code, Annual review of Genetic, 21,
69.
Giles, R.E., Blanc, H., Cann, H.M., Wallace, D.C., (1980), Maternal Inheritance of Human
Mitochondrial DNA, Proc. Natl. Acad. Sci., USA, 77, 6715-6719.
http://contexo.info/DNA_Basics/Mitochondria.htm
http://employees.csbsju.edu/hjakubowski/classes/ch331/dna/oldnalanguage.html
http://www.kalbe.co.id
Innis, M.A. dan Gelfand, D.H., (1990), PCR Protocol : A Guide to Methods and
Applications, Academic Press, Inc, New York.
Ivanov P.L., Wadhams M.J., Holland M.M., Weedn V.W., Parsons T.J., (1996),
Mitochondrial DNA Sequence Heteroplasmy in The Grand Duke of Russia Georgij
Romanov Establishes The Authenticity of The Remains of Tsar Nicholas II, Nat. Genet., 12,
417–420.
Lewin, B., (1997), Genes VI, 6th edition, Oxford University Press and Cell Press.
Lodish, H., (2001), Molecular Cell Biology, 4th edition, W.H. Freeman and Company,
England.
39
Maksum, I. P. (2003), Tiga Mutasi Substitusi Spesifik Daerah D-loop DNA Mitokondria
yang Lestari pada Tujuh Generasi Segaris Keturunan Ibu Manusia Indonesia, Tesis, Institut
Teknologi Bandung, Bandung.
Malik, S., Sudoyo, H., Pramoonjago, P., Suryadi, H., Sukarna, T., Njunting, M.,
Sahiratmadja, E., Marzuki, S., (2002), Nuclear Mitochondrial Interplay in the Modulation of
the Homopolymeric Tract Length Heteroplasmy in the Control (D-loop) Region of the
Mitochondrial DNA, Hum Genet., 110 hal 402-411.
Manfredi, G., Thyagarajan, D., Papadopoulou, L.C., Palotti, F., Schon, E.A., (1997), The
Fate of Human Sperm-Derived MtDNA in Somatic Cells, Am. J. Hum. Genet., 61, 953-960.
Margulis, L., (1981), Symbiosis in Cell Evolution, W.H. Freeman and Company, England.
Martasih, F., (1994), Analisis Pola Keragaman Bentuk (Polimorfisme) DNA Mitokondria
Manusia Pada Urutan Basa 15978 – 16420 Dengan Menggunakan Enzim Restriksi HinfI dan
KpnI, Tesis, Institut Teknologi Bandung, Bandung.
Marzuki, S., Noer, A. S., Lertrit, P., Thyagarajan, D., Kapsa, R. M. I., Uttahanaphol, P.,
Bryne, E., (1991), Normal Variants of Human Mitochondrial DNA and Translation Products:
The Building of a Reference Data Base, Human Genetics, 88(2), 139-145.
Marzuki, S., Sudoyo, H., Suryadi, H., Setianingsih, I., Pramoonjago, P., (2003). Human
Genome Diversity and Disease on The Island Southeast Asia. Adv Exp Med Biol. 531, 3-18.
Mathews, C. K. dan Van Holde, K. E., (1996), Biochemistry, 2nd edition, The
Benjamin/Cummings Publishing Company, Inc., California.
Mullis, K., Faloona, F., scharf, S., Saiki, R., Horn, G., dan Erlich, H., (1986), Specific
Enzymatic Amplification of DNA in Vitro: The Polymerase Chain Reaction, Cold Spring
harbor Symp. Quant Biol., 51, 263-273.
Mullis, K. dan Faloona, F., (1987), Specific Synthesis of DNA in Vitro via PolymeraseCatalyzed Chain Reaction, Methods Enzymol., 155, 335-350.
Newton, C.R. dan Graham, A., (1997), PCR, 2nd edition, BIOS Sciencetific Publishers
Limited, England.
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.
Paabo, S., (1990), Amplifying ancient DNA, didalam PCR protocols a guide to methods and
applications, Academic Press, Inc. San Diego, California, USA.
40
Ratnayani, K. (2000), Varian Normal Fragmen 1,6 Kb Daerah Gen ND4 dan ND5 DNA
Mitokondria 10 Individu Indonesia, Tesis Magister, Institut Teknologi Bandung, Bandung, h.
24-28, 33-35.
Richter, C., (1988), Do Mitochondrial DNA Fragments Promote Cancer and Aging?, FEBS
Lett. 241, 1-5.
Sambrook, J., Fritsch, E.F., dan Maniatis , T., (1989), Molecular Cloning a Laboratory
Mannual, 2nd ed, Cold Spring Harbour Laboratory Press, New York.
Sanger, F., Nicklen, S., Coulson, A.R., (1977), DNA Sequencing with Chain Terminating
Inhibitors, Proceedings of the National Academy of Science of the United State of America.
74(12):5463-7.
Saputra, H., (2005), Beberapa Mutasi Dominan Pada Daerah HVI mtDNA Manusia
Indonesia, Skripsi, Institut Teknologi Bandung, Bandung.
Siti, H., (2005), Daerah HV1 DNA Mitokondria Manusia yang Mengandung Poli-C, Tesis,
Bidang Studi Magister Kimia Program Pascasarjana, ITB, Bandung.
Sudoyo, H., (2003), Polimorfisme DNA Mitokondria dan Kedokteran Forensik, Eijkman
Lecture Series 1, Lembaga Biologi Molekul Eijkman, Jakarta, 43-55.
Sunarto, Santosa dan Hadi, Suyanto, (2005), Pengenalan Miopati Mitokondria, Cermin
Dunia Kedokteran No.147, Fakultas Kedokteran Universitas Dipenogoro, Semarang.
Wallace, D. C. (1997), Mitochondrial DNA in Aging and Disease, Scientific American, 2229.
Wandia, I Nengah, (2005), Genom Mitokondria, Jurnal Veteriner, Fakultas Kedokteran
Universitas Udayana, Denpasar.
Wuryanturi, Haplotipe DNA Mitokondria Manusia Prasejarah Jawa dan Bali (Berumur
sekitar 2000 tahun) sejarah Populasi dan Kekerabatannya, Tesis Magister, Program Studi
Ilmu Biomedik, Fakultas Kedokteran Universitas Indonesia, Jakarta.
Zeviani, M., Tiranti, V., dan Piantadosi, C., (1998), Reviews in Molecular Medicine.
Mithochondrial Disorders. Medicine, 77, 59-72.
41
Lampiran A. Elektroforegram Sampel
Sampel G10
42
Sampel G18
43
Sampel G1
44
Sampel G2
45
Sampel G3
46
Lampiran B. Urutan Nukleotida Sampel
Sampel G10
16024 TTCTTTCATG
GGGAAGCAGA
TTTGGGTACC
ACCCAAGTAT
16064 TGACTCACCC
ATCAACAACC
GCTATGTATT
TCGTACATTA
16104 CTGCCAGCCA
CCATGAATAT
TGTACAGTAC
CATAAATACT
16144 TGACCACCTG
TAGTACATAA
AAACCCAATC
CACATCAAAA
16184 CCCCCCCCCC
CATGCTTACA
AGCAAGCACA
GCAATCAACC
16224 CTCAACTATC
ACACATCAAC
TGCAACTCCA
AAGCCACCCC
16264 TCACCCACTA
GGATACCAAC
AAACCTACCC
ACCCTTAACA
16304 GTACATAGTA
CATAAAGCCA
TTTACCGTAC
ATAGCACATT
16344 ACAGTCAAAT
CCCTTCTCGT
CCCCATGGAT
GACCCCCCTC
16384 AGATA
Sampel G18
16024
TTCTTTCATG
GGGAAGCAGA
TTTGGGTACC
ACCCAAGTAT
16064
TGACTCACCC
ATCAACAACC
GCTATGTATT
TCGTACATTA
16104
CTGCCAGCCA
CCATGAATAT
TGTACAGTAC
CATAAATACT
16144
TGACCACCTG
TAGTACATAA
AAACCCAATC
CACATCAAAA
16184
CCCCCCCCCC
CCATGCTTAC
AAGCAAGCAC
AGCAATCAAC
16224
CTTCAACTAT
CACACATCAA
CTGCAACTCC
AAAGCCACCC
16264
CTCACCCACT
AGGATACCAA
CAAACCTACC
CACCCTTAAC
16304
AGCACATAGT
ACATAAAGCC
ATTTACCGTA
CATAGCACAT
16344
TACAGTCAAA
TCCCTTCTCG
TCCCCATGGA
TGACCCCCCT
16384
CAGATA
47
Lampiran C. Perbandingan Rangkaian Poli-C Sampel
Sampel G10
Sampel G18
48
Sampel G1
Sampel G2
Sampel G3
49
1419 pb
517 pb
397 pb
214 pb
0,4 kb
1419 pb
517 pb
397 pb
214 pb
0,4 kb