Genetic polymorphisms in mitochondrial DNA hypervariable regions I, II and III of the Malaysian population

Abstract

Nucleotide sequence variabilities in the three hypervariable (HV-) regions, HV1, HV2, and HV3, of the noncoding control region of human mitochondrial DNA (mtDNA) from a portion of the Malaysian population were elucidated with the use of polymerase chain reaction (PCR) appropriate gel detection and flourescence based sequencing methodologies. Genomic DNA were extracted from 195 randomly selected individuals (15 samples from each of the 13 ethnicities ranging from of Malay, Chinese, Indian, Punjabi, indigenous Sarawakian, indigenous Sabahan, and Orang Asli ) and nucleotide sequence variabilities in HV1, HV2, and HV3 regions, were determined. These were located in the control region that contains sequences responsible for transcription and replication control of the mtDNA. The control region is located between the tRNA genes that encoded proline and phenylalanine, respectively. We found that the noncoding segments of the control region were polymorphic in the Malaysian samples. The polymorphisms within the control region exhibited a significant degree of diversity, thus enabling the three HV-regions of the control region of mtDNA to be used as additional markers in individual identification in forensic investigations, supplementing nuclear DNA markers. The results generated could also further complement anthropology and population studies in Asia.