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Abstract

Endogamy continues to occur among the Madurese people in rural areas of the island of Madura, especially those areas of the smallest islands around the mainland of Madura. Endogamy as seen from a genetic standpoint will increase the frequency of homozygous genotypes. With regard to genetic variations, STRs of nuclear DNA and polymorphisms in mtDNA are frequently examined. Mitochondrial variations in the human undergo an evolutionary process through the accumulation of changes in DNA sequence, i.e. through the process of nucleotide substitutions that evolves in number with the directional development of lineage. So far, the genetic variations among the populations in Madura Island have not been known. The present study was an observational analytical research with the purpose of determining the genetic variations in the polymorphisms of 126-bp mtDNA D-Loop HV2 (nt: 34-159) in the populations of Madura Island. Results indicated that, based on the homology analysis with rCRS sequence, there were 9 variants consisting of two transition mutations, 6 transversion mutations, and one insertion mutation. This indicates that a transversion mutation had a higher probability than transition and insertion mutations. According to Mustama (2007), a gene pool is not only a collection of genes but a dynamic system organized and containing the past history of a population. Any genetic information has certain historical, anthropological and statistical aspects necessitating an interdisciplinary coordination and collaboration.

Keywords

D-Loop variants Madurese ethnic

Article Details

How to Cite
Sulistyorini, N., Yudianto, A., & Margaret, N. (2017). NUCLEOTIDE VARIANCE OF MITOCHONDRIAL DNA D-Loop 126 bp (nt: 34-159) REGION IN MADURESE. Folia Medica Indonesiana, 52(2), 80–86. https://doi.org/10.20473/fmi.v52i2.5215

References

  1. Anderson S, Bankier AT, Barrell BG, De Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981). Sequence and organization of the human mitochondrial genome. Nature 290, 457-465
  2. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999). Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23, 147
  3. Butler JM, Shen Y, McCord BR (2003). The development of reduced size STR amplicons as tools for analysis of degraded DNA. Journal of Forensic Sciences 48, 1054-1064
  4. Bodmer WF and Cavalli-Sforza LL (1976). Genetics, Evolution and Man, San Fransisco, WH Freeman and Company
  5. Gabriel MN, Huffine EF, Ryan JH, Holland MM, Parsons TJ (2001). Improved mtDNA sequence analysis of forensic remains using a "mini-primer” set amplification strategy. Journal of Forensic Sciences 46, 247
  6. Ginther C, Issel-Tarver L, King MC (1992). Identifying individuals by sequencing mitochondrial DNA from teeth. Nat Genet 2, 135-138
  7. Lusida MI, Handajani R, Purwanta M (1999). DNA sequencing. In: Putra ST (ed). Biologi Molekuler Kedokteran, Surabaya, AUP, 136-149
  8. Mastana S (2007). Molecular antropology: population and forensic genetic applications. Anthropologist Special 3, 373-383
  9. Ratnayani K, Wirajana IN, Laksmiwati AAIAM (2007). Analisis variasi nukleotida daerah D-Loop DNA mitokondria pada satu individu suku bali normal. Jurnal Kimia 1, 7-14
  10. Robin ED and Wong R (1988). Mitochondrial DNA molecules and number of Mitochondria per cell in mamillian cells. J Cellular Physiology 136, 507-513
  11. Roux KH (1995). Optimization and troubleshooting in PCR. In: Dieffenbach CW and Dveksler GS (eds). PCR primer: a laboratory manual. New York, Cold Spring Harbor Laboratory Press, p 53-62
  12. Stinson S, Bogin B, Hush-Ashmore R, O'Rourke D (2000). Human Biology, An Evolutionary and Biocultural Perspective, New York, Willey-Liss, p 4-7
  13. Sullivan KM, Hopgood R, Gill P (1992). Identification of human remains by amplification and automated sequencing of mitochondrial DNA. Int J Legal Med 105, 83-86
  14. Syukriani Y (2012). DNA Forensik, Jakarta, PT Sagung
  15. Susanto AH (2011). Genetika, Jakarta, Graha Ilmu
  16. Wallace DC (1997). Mitochondrial DNA variation in human evolution, degenerative disease and aging. American Journal of Human Genetic 57, 201-223

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