Mitochondrial DNA Variation Analysis of Mentawai Population Todia Pediatama Faculty of Medicine, UniversitasPadjadjaran Bandung, Indonesia todiapediatama@gmail.com Yoni F. Syukriani Department of Forensic Medicine, Faculty of Medicine, UniversitasPadjadjaran Bandung, Indonesia yoni@dr.com Muhammad N. Shahib Department of Biochemistry, Faculty of Medicine, UniversitasPadjadjaran Bandung, Indonesia nurhalimshahib@yahoo.com Abstract Mentawai people is one of the indigenous tribes of Mentawai islands, West Sumatra, Indonesian archipelago. Until now, the genetic study focusing in Mentawai population and its relationship with other population is scarce. Population genetic study using mitochondrial DNA analysis would provide better understanding about Mentawai population and their relationship with other populations. Mitochondrial DNA HV1 (hypervariable region 1) data were collected from GenBank with total sample of 2408 comprising 17 populations in Asia, Africa, and Europe. Mentawai, Basque, Kenya, Egypt, Ainu, Koryak, Nivkh, South China, Hongkong, Aboriginal Taiwan, Philippines, Thailand, Myanmar, Papua, Bugis, Java, and Batak Negritos. Statistical analysis of genetic distance was performed by Arlequin software. Phylogenetic tree calculation based on the genetic distance data was performed using MEGA5 software. Mentawai population (n=128) have 18 haplotypes and 6 of them are shared with other populations. The Philippines (n=100) shared 19% of its haplotype variation with Mentawai population. Mentawai population demonstrates the smallest genetic distance with the Philippines (F ST =0.04534), Thailand (F ST =0.05625), Bugis (F ST =0.07018), and South China (F ST =0.07576) populations compared to other populations (p-value=0.0000±0.000). The phylogenetic tree analysis showed the possibility that Mentawai, Philippines, Bugis, and South China populations were rooted from Aboriginal Taiwan as the common ancestor. All evidence suggests that Mentawai population have the closest genetic relationship with Philippines population. This is in accordance to the theory of South East Asia population originated from migrating Aboriginal Taiwan population through the Philippines. Keyword: genetic analysis, mitochondrial DNA, Mentawai, population genetics, variation 1 Introduction Mentawai islands regency is part of West Sumatran province of Indonesia. The distance from Padang, the capital of West Sumatran province, to Tuapejat, the capital of Mentawai islands regency, is 153 km west off shore across the Mentawai straits. With total area of 6.011,35 km 2 , these islands consist of 4 major islands, Siberut, Sipura, North Pagai, and South Pagai.[1] Figure 1.Mentawai islands (Modified from Lokasi KabupatenKepulauan Mentawai di Provinsi Sumatera Barat© User:JackMerridew / Wikimedia Commons / CC-BY-SA-3.0) The native inhabitant of Mentawai islands is known as Mentawai people. This indigenous inhabitant have a unique culture and speak a variation of Austronesian language.[2] Until now, the history, ancestry, and their relation to other population in the world are still unclear. Mitochondrial DNA is small circular genomic information resides in mitochondria with a length of 16569 nucleotide base, separated to coding and non-coding region. Since the first mitochondrial DNA sequenced in 1981, mtDNA has a number of uses in many disciplines, forensic science, anthropological science, health science, etc. Mutations found in mtDNA could signify health problems, knowing the identification or ancestry of a person based on the mutation location.[3, 4] 978-1-880843-94-9 / copyright ISCA, BICOB 2014 March 24-26, 2014, Las Vegas, Nevada, USA 149