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DAFTAR PUSTAKA

Ames, B.N.(1989), Endogenous DNA damage as related to cancer and aging. Mutat.res., 214, 41-46

Anderson, S., Bankier, A. T., Barrel, B. G., de Bruijn, 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., dan Young, I. G. (1981), Sequence and Organization of the Human Mitochondrial Genome, Nature, 290 (5806), 457-467

Andrews, R.M., Kubacka, I., Chinnery, P.F., Lightowlers, R.N., Turnbull, D.M.

and Howell, N. (1999), Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA, Nature genetics, 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

Clayton, D.A. (1991), Nuclear gadgets in mitochondrial DNA replication and

transcription. Trends Biochem.,16, 107 Cheng, S., Fockler, C.,Barnes, M.W., and Higuchi, R. (1994), Effective

amplification of long target from cloned inserts and human genomic DNA, 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

Cooper, G.M. (2000), Nuclear gadgets in mitochondrial DNA replication and

transcription, Trends. Biochem, 16, 107 DNASTAR (1997), Lasergene : Sofware for windows, User’s guide. DNASTAR

Inc. Gill, P. (2001), Biological evidence (including hair), 13th interpol Forensic Sciece

Symposium, Lyon, France Guo, Guang Xue., Guo, Qiao-Nan. (2006), Mutations in the mitochondrial DNA

D-Loop region occur frequently in human osteosarcoma. Cancer Letters, 239, 151–155

40

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

Horaiet, S., Hayasaka, K., Kondo, R., Tsugane, K., and Takahata, N. (1995),

Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs, Proc. Natl.Acad. Sci. Usa. 92, 532-536

Holland, M.M. (1997), Automated DNA sequence Analysis ; sequencing

mitochondrial DNA. Congress of forensic Science and Human Identify. Innsbruch, Austria.

Ivanov, P.L., Wadhams, M.J., Roby, R.K., Holland, M.M., Weedn, W.V.,

Parsons, T.J.(1996), Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia georgij Romanov establishes the authencity of the remains of Tsar Nicholas II. Nat. Gen., 12, 417-420

Innis, M.A., Gelfand, D.H. (1990), Optimation of PCRs, PCR protocols : A guide

to Methods and Aplications, Academic Press, Inc., california, 3-12 DeLong Frost., Peart. (2003), DNA isolation from a dried blood sample, PCR

amplification, and population analysis: Making the most of commercially vailable kits, Biochem. Mol. Biol. Educ. 31, 418–421

Liu San,C., Ko Yon,L., Lim Seong, P., Kao Huei,S., Wei,Huei,Y. (2001),

Biomarkers of DNA Damage in Patients with end-stage renal disease : mitochondrial DNA mutation in Hair Follicles, Nephrol Dial Transplant, 16, 561-565

Karp, G. (1999), Cell and Molecular Biology : Concept and Experiments, 2nd

edition, John Wiley & Sons, Inc., New York, Chichester, Weinheim, Brisbane, Toronto, Singapore, 182-191

Knight, B. (1991), Simpson’s forensic medicine. 10th ed. Edward Arnold, London.

Melbourne. Aucland, 46-56 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 , 402-411

Marzuki, S., Noer, A.S., Letrit, P., Thyagarajan, D.,Kapsa, R., Utthanaphol, P.,

Byrne, E. (1991), Normal variants of human mitochondrial DNA and translation products; the building of a reference database, Hum.Genet., 88, 139-145

41

Melton, T., Nelson, K. (2001), Forensic mtDNA analysis: Two years of

commercial casework experience in the United States, Croation Medical Journal, 42, 298-303

Moore, J.M., Isenberg, A.R. (1999), Mitochondrial DNA analysis of the FBI

laboratory, Forensic Science Communicaion, 1,2 Moraes, C.T., Kenyon, L., Keshav, K.S. (1999), Mechanisms of human

mitochondrial DNA maintenance : The determining role of primary sequence and length over fungtion, Mol. Biol. Cell, 10, 3345-3356

Noer, A. S., Martasih, F., Mulyani, S., Muktiningsih, Wirahadikusumah, M.

(1994), Analisis Varian Urutan Nukleotida D-loop mtDNA Manusia dari Berbagai Daerah di Indonesia, Proseeding Seminar Bersama UKM-ITB, I, 201-214

Newton, C.R., and Graham, A. (1997), PCR, 2nd edition, BIOS Scientific

Publisher Limited, UK Rahmadi, B. (2007), Metoda analisis 917 pasang basa daerah D-loop DNA

Mitokondria manusia. Skripsi. Institut Teknologi Bandung. Robertson, M. (1996), Sequencing difficult template, Biomolecular techniques,

University of Utah Robin, E.D., Wong, R. (1988), J. Cell. Phys. 136 : 507-513 Sambrook, J., Fritsch, E.F. Manitias, T. (1989), Molecular cloning : A laboratory

manual, Vol. 1,2,3. Cold Spring Harbor Laboratory Press new York

Trifunovic, A. (2006): Mitochondrial DNA and ageing. Biochimica et Biophysica Acta. 1757, 611–617

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, D. C. (1997), Review: Mitochondrial DNA in Aging and Disease,

Scientific American, 22-29 Wei, Y. H., (1992), Mitochondrial DNA alterations as ageing-associated

molecular events, Mutat. Res., 275, 145-155

42

Watson, J.D, Hopkins, N.H., Roberts. J.W., Steith, J.A., Weiner, A.M. (1987), Molecular biology of the gene, The Benjamin/Cummings Publishing Company Inc.California

Wilson, M.R., Dizinno, J.A., Polanskey, D., Replogle, J., Budowle, B. (1995),

Sequensing for Forensic Casework Analysis, International Journal of Legal Medicine, 108 (2), 68-74

Wilson, M.R., Polansky, D., Repogle, J., Dizinno, J.A., Budowle, B. (1997), A

family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes, Hum Genet., 100, 167-171

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Lampiran 1 : Hasil sekuensing dalam bentuk elektroforegram

A. Individu umur 10 tahun

B. Individu umur 20 tahun

45

C. Individu umur 30 tahun

46

D. Individu umur 40 tahun

47

48

49

E. Individu umur 80 tahun

50

51

52

Lampiran 2 : Urutan nukleotida 12 sampel dari lima individu yang berbeda umur

Sampel Posisi nukleotida

Urutan nukleotida

Darah

10 Rambut

Darah

20

Rambut

Darah

Epitel

30

Rambut

53

Darah

Epitel

40

Rambut

Darah

80

Rambut

54

Lampiran 3: Elektroforegram sampel yang menunjukkan mutasi pada 12 sampel A. Individu umur 10 tahun

B. Individu umur 20 tahun

55

C. Individu umur 30 tahun

56

D. Individu umur 40 tahun

57

58

59

E. Individu umur 80 tahun

60

61

62

Lampiran 4 : Fungsi lokasi pada DNA mitokondria manusia

Posisi (nt) Singkatan Deskripsi 1 2 3

57-372 HVSII Hypervariable segment 2 110-441 OH H-strand origin 213-235 CSB1 Conserved sequence block I 233-260 mtTF1 binding site 276-303 mtTF1 binding site 299-31 CSB2 Conserved sequence block II 317-321 Replication primer 346-363 CSB3 Conserved sequence block III 371-379 Mt4 H-strand control element 384-391 Mt3 H-strand control element 392-445 PL L-strand promoter 418-445 mtTF1 binding site 52-550 mtTF1 binding site 545-567 PH1 Major-H-strand promoter 577-647 F tRNA Phenylalanine 645-645 PH2 Minor-H-strand promoter 648-1601 12s 12s rRNA 1602-1670 V tRNA Valine 1671-3229 16s 16s rRNA 3206-3229 5S-like sequence 3229-3256 Transkription terminator 3230-3304 L tRNA Leucine 1 3305-3306 Non-coding nucleotides 3307-4262 ND1 NADH dehydogenase 1 4263-4331 I tRNA Isoleucine 4329-400 Q tRNA Glutamine 4401-4401 Non-coding nucleotides 4402-4469 M tRNA Methionine 4470-5511 ND2 NADH dehydogenase 2 5512-576 W Trna Trytophan 5577-5576 Non-coding nucleotides 5587-5655 A tRNA Alanine 5656-5656 Non-coding nucleotides 5657-5729 N tRNA Asparagine 5721-5798 OL L-strand origin 5761-5826 C tRNA Cysteine 5826-5891 Y tRNA Tyrosine 5892-5903 Non-coding nucleotides 5904-7445 COI Cytochrome c oxidase I 7445-7516 S tRNA Serine 7517-7517 Non-coding nucleotides

63

1 2 3 7518-7585 D tRNA Aspartic acid 7586-8269 COII Cytochrome c oxidase II 8270-8294 Non-coding nucleotides 8295-8364 K tRNA Lysine 8365-8365 Non-coding nucleotides 8366-8572 ATPase8 ATP synthase 8 8527-9207 ATPase6 ATP synthase 6 9207-9990 COII Cytochrome c oxidase III 9991-10058 G tRNA Glycine 10059-10404 ND3 NADH dehydrogenase 3 10405-10469 R tRNA Arginine 10470-10766 ND4L NADH dehydrogenase 4L 10760-12137 ND4 NADH dehydrogenase 4 12138-12206 H tRNA histidine 12207-12265 S tRNA Serine 2 12266-12336 L tRNA Lysine 2 12337-14148 ND5 NADH dehydrogenase 5 14149-14673 ND6 NADH dehydrogenase 6 14674-14742 E tRNA Glutamic acid 14743-14746 Non-coding nucleotides 1474715887 CytB Cytochrame b 15888-15953 T tRNA Threonine 15925-499 Membrane attachment site 15954-15954 Non-coding nucleotides 15955-16023 P tRNA praline 16024-576 D-Loop Displacement loop(see note below) 16024-16383 HVSI Hypervaiable segment 1 16106-191 7S 7s DNA 16175-16172 TAS Termination sequence 16194-16208 mt5 Control element 16499-16506 mt3 L-strand control element

Sumber : MITOMAP (http://www.mitomap.org) Catatan :

- “D-Loop” merujuk pada daerah yang tidak mengode ( non-coding region) antara prolin and phenylalanin (np 16024-576)

- Posisi nukleotida (np) ditentukan berdasarkan urutan nukleotida DNA. Posisi nukleotida (np) merujuk pada nomor nukleotida berdasarkan urutan CRS yang digunakan sebagai standar

- Posisi promoter untai L-teridentifikasi pada nukleotida 407, 392-435. - Posisi promoter untai H-teridentifikasi pada nukleotida 559-561 - Posisi replikasi untai L teridentifikasi pada nukleotida 5721-5781, 5761, 5799.