<![CDATA[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.]]>
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