Original Article

Journal of Human Genetics (2006) 51, 244–248; doi:10.1007/s10038-005-0352-7

Austronesian origin of the 27-bp deletion of the erythrocyte band 3 gene in East Sepik, Papua New Guinea inferred from mtDNA analysis

Takahiro Tsukahara1, Francis Wanak Hombhanje2, Jeffrey Koji Lum3, Ilomo Hwaihwanje4, Andrew Masta2, Akira Kaneko1,5 and Takatoshi Kobayakawa1

  1. 1Department of International Affairs and Tropical Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan
  2. 2School of Medicine and Health Sciences, University of Papua New Guinea, Port Moresby, Papua New Guinea
  3. 3Department of Anthropology, Binghamton University, Binghamton, NY, USA
  4. 4Wewak General Hospital, Wewak, Papua New Guinea
  5. 5Department of Medicine, Karolinska Institute, Stockholm, Sweden

Correspondence: Francis Wanak Hombhanje, Department of International Affairs and Tropical Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan. Fax: +81-3-52697422. E-mail: takahiro@research.twmu.ac.jp

Received 18 August 2005; Accepted 16 November 2005; Published online 21 January 2006.

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Abstract

The 27-bp deletion in the erythrocyte band 3 gene (B3Delta27) constitutes a genetic basis for Southeast Asian and Melanesian ovalocytosis. The distribution of B3Delta27 has been interpreted to reflect malaria selection or dispersal of the recent expansion of Austronesian-speaking populations. To explore these two hypotheses, we examined eight malarious populations of the East Sepik Province of Papua New Guinea (PNG) that speak both the Austronesian and Papuan languages. The B3Delta27 allele frequencies within populations were not positively correlated with malaria endemicities. In contrast, statistically significant geographical variations in the B3Delta27 allele distribution were observed. B3Delta27 was high (0.06-0.07) in the islands, intermediate (0.02-0.03) in coastal regions, but was absent or rare (0.00-0.01) in inland populations. Furthermore, the prevalence of the mitochondrial DNA region V 9-bp deletion, associated with the Austronesian expansion, was significantly correlated with that of B3Delta27. These results suggest that B3Delta27 was introduced by Austronesian-speaking people within the past 3,500 years and susequently expanded to populations along the coasts and islands of PNG. This study highlights the contribution of population origins, patterns of gene flow, disease selection and genetic drift in determining the genetic compositions of present populations.

Keywords:

Southeast Asian and Melanesian ovalocytosis, Malaria, Austronesian, Papua New Guinea, mtDNA

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