Skip to main content

Human Genome Diversity and Disease on the Island Southeast Asia

  • Chapter
Tropical Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 531))

Abstract

The island Southeast Asia (also referred to in the literature as the Malay, the Southeast Asian, and, more recently, the Indo-Malaysian Archipelago), which includes present-day Indonesia, East Malaysia, and the Philippines, is an area with very diverse populations. Archaeological records indicate that this archipelago has been a dynamic theatre of human development and migration for tens of millenniums, and thus is of great interest in terms of human genome diversity. The Indonesian part of the archipelago alone is home to around 500 ethnic populations, each with distinct cultural and linguistic characteristics, representing vast genome diversity.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Similar content being viewed by others

References

  • Ballinger, S.W., Schurr, T.G., Torroni, A., Gan, Y.Y., Hodge, J.A., Hassan, K., Chen, K.H., and Wallace, D.C., 1992, Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient Mongoloid migrations. Genetics 130 139–152.

    PubMed  CAS  Google Scholar 

  • Bellwood, P., 1997, Prehistory of the Indo-Malaysian Archipelago. University of Hawaii Press, Honolulu.

    Google Scholar 

  • Capelli, C., Wilson, J.F., Richards, M., Stumpf, M.P.H., Gratrix, F., Oppenheimer, S., et al., 2001, A predominantly indigenous paternal heritage for the Austronesian-speaking peoples of insular Southeast Asia and Oceanic. Am. J. Hum. Genet. 68 432–443.

    Article  PubMed  CAS  Google Scholar 

  • Chambers, E.J., Bloomberg, G.B., Ring, S.M., and Tanner, M.J., 1999, Structural studies on the effects of the deletion in the red cell anion exchanger (band 3, AE1) associated with South East Asian ovalocytosis. J. Mol. Biol. 285 1289–1307.

    Article  PubMed  CAS  Google Scholar 

  • Cribb, R., 2000, Historical atlas of Indonesia. Curzon Press, London.

    Google Scholar 

  • Fucharoen, G., Fucharoen, S., and Horai, S., 2001, Mitochondrial DNA polymorphisms in Thailand. J. Hum. Genet. 46 115–125.

    Article  PubMed  CAS  Google Scholar 

  • Geertz, H., 1963, Indonesian cultures and communities in Indonesia. Yale University Press, Yale, New Haven, CT.

    Google Scholar 

  • Hagelberg, E., Kayser, M., Nagy, M., Roewer, L., Zimdahl, H., Krawczak, M., Lio, P., and Schiefenhövel, S., 1999, Molecular genetic evidence for the human settlement of the Pacific: analysis of mitochondrial DNA, Y chromosome and HLA markers. Phil. Trans. R. Soc. Lond. B 354 141–152.

    Article  CAS  Google Scholar 

  • Handoko, H.Y., Lum, J.K., Gustiani, Rismalia, Kartapradja, H., Sofro, A.S.M., and Marzuki, S., 2001, Length variations in the COII-tRNAlys intergenic region of mitochondrial DNA in Indonesian populations. Hum. Biol. 73 205–233

    Article  PubMed  CAS  Google Scholar 

  • Iwai, K., Hirono, A., Matsuoka, H., Kawamoto, F., Horie, T., Lin, K., Tantular, I.S., Dachfan, Y.P., Notopuro, H., Hidayah, N.I., Salim, A.M., Fujii, H., Miwa, S., and Ishii, A., 2001, Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia. Hum. Genet. 108 445–449.

    Article  PubMed  CAS  Google Scholar 

  • Kimura, M., Shimizu, Y., Ishida, W.S., Soemantri, A., Tiwaweh, D., Romphruk, A., Duangchan, P., and Ishida, T., 1998, Twenty seven base pair deletion in erythrocyte band 3 protein gene responsible for Southeast Asian ovalocytosis is not common among Southeast Asians. Hum. Biol. 70 993–1000.

    PubMed  CAS  Google Scholar 

  • Lie-Injo, L.E., Cai, S.P., Wahidiyat, I., Moeslichan, S., Lim, M.I., Evangelista, L., Doherty, M., and Kan, Y.W., 1989, fl-thalassemia mutations in Indonesia and their linkage to ßhaplotypes. Am. J. Hum. Genet. 45 971–975.

    PubMed  CAS  Google Scholar 

  • Lum, J.K., Richards, O., Ching, C., and Cann, R.L., 1994, Polynesian mitochondrial DNAs reveal three deep maternal lineage clusters. Hum. Biol. 66 567–590.

    PubMed  CAS  Google Scholar 

  • Lum, J.K., and Cann, R.L., 1998, MtDNA and language support a common origin of Micronesians and Polynesians in Island Southeast Asia. Am. J. Phys. Anthrop. 105 109–119.

    Article  PubMed  CAS  Google Scholar 

  • Lum, J.K., Cann, R.L., Martinson, J.J., and Jorde, L.B., 1998, Mitochondrial and nuclear genetic relationships among Pacific Island and Asian populations. Am. J. Hum. Genet. 63 613–624.

    Article  PubMed  CAS  Google Scholar 

  • Luzzi, G.A., Merry, A.H., Newbold, C.I., Marsh, K., Pasvol, G., and Weatherall, D.J., 1991, Surface antigen expression on Plasmodium falciparum-infected erythrocytes is modified in a-and 0-thalassemia. J Exp. Med. 173 785–791.

    Article  PubMed  CAS  Google Scholar 

  • Malik, S., Sudoyo, H., Pramoonjago, P., Suryadi, H., Sukarna, T., Nyunting, M., Sahiratmadja, E., and Marzuki, S., 2002, Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA. Hum. Genet. 110 402–411.

    Article  PubMed  CAS  Google Scholar 

  • Malik, S., Sudoyo, H., Sasmono, T., Winata, S., Arhya, I.N., Pramoonjago, P., Sudana, W., and Marzuki, S., 2003, Non-syndromic sensorineural deafness in a Balinese family associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA. J. Hum. Genet., in press.

    Google Scholar 

  • Melton, T., Peterson, R., Redd, A.J., Saha, N., Sofro, A.S.M., Martinson, J., and Stoneking, M., 1995, Polynesian genetic affinities with Southeast Asian populations as identified by mtDNA analysis. Am. J. Hum. Genet. 57 403–414.

    PubMed  CAS  Google Scholar 

  • Mulyanto, Tsuda, F., Karossi, A.T., Soewignjo, S., Roestamsjah, Sumarsidi, D., Trisnamurti, R.H, Sumardi, et al., 1997, Distribution of the hepatitis B surface antigen subtypes in Indonesia: implications for ethnic heterogeneity and infection control measures. Arch. Virol. 142 2121–2129.

    Article  PubMed  CAS  Google Scholar 

  • Pramoonjago, P., Harahap, A., Taufani, R.A., Setianingsih, I., and Marzuki, S., 1999, Rapid screening for the most common ß thalassemia mutations in south east Asia by PCR based restriction fragment length polymorphism analysis (PCR-RFLP). J. Med. Genet. 36 937–938.

    PubMed  CAS  Google Scholar 

  • Redd, A.J., Takezaki, N., Sherry, S.T., McGarvey S.T., Sofro, A.S.M., and Stoneking, M., 1995, Evolutionary history of the COII/TrnaLys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific. Mol. Biol. Evol. 12 604–615.

    PubMed  CAS  Google Scholar 

  • Setianingsih, I., Williamson, R., Marzuki, S., Harahap, A., Tamam, M., and Forrest, S., 1998, Molecular basis of ß-thalassemia in Indonesia: application to prenatal diagnosis. Mol. Diagn. 3: 11–20.

    Article  PubMed  CAS  Google Scholar 

  • Setianingsih, I., Williamson, R., Daud, D., Harahap, A., Marzuki, S., and Forrest, S., 1999, Phenotypic variability of Filipino ß0-thalassemia/HbE patients in Indonesia. Am. J. Hematol. 62 7–12.

    Article  PubMed  CAS  Google Scholar 

  • Sibeth, A., 1991, The Batak. Peoples of the Island of Sumatra. Thames and Hudson, New York.

    Google Scholar 

  • Soemantri, A.G., Saha, S., Saha, N., and Tay, J.S., 1995, Molecular variants of red cell glucose-6-phosphate dehydrogenase deficiency in Central Java, Indonesia. Hum. Hered. 45 346–350.

    Article  PubMed  CAS  Google Scholar 

  • Sudoyo, H., Suryadi, H., Lertrit, P., Pramoonjago, P., Lyrawati, D., and Marzuki, S., 2002, Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber’s hereditary optic neuropathy. J. Hum. Genet. 47 594–604.

    Article  PubMed  CAS  Google Scholar 

  • Sykes, B., Leiboff, A., Low-Beer, J., Tetzner, S., and Richard, M., 1995, The origins of the Polynesians: an interpretation from mitochondrial lineage analysis. Am. J. Hum. Genet. 57 1463–1475.

    PubMed  CAS  Google Scholar 

  • Tajima, A., Pan, I.H., Fucharoen, G., Fucharoen, S., Matsuo, M., Tokunaga, K., Juji, T., Hayami, M., Omoto, K., and Horai, S., 2002, Three major lineages of Asian Y chromosomes: implications for the peopling of east and southeast Asia. Hum. Genet. 110 80–88.

    Article  PubMed  CAS  Google Scholar 

  • Tomasseo-Ponzetta, M., Attimonelli, M., De Robertis, M., Tanzariello, F., and Saccone, C., 2002, Mitochondrial DNA variability of West New Guinea populations. Am. J. Phys..Anthrop. 117 49–67.

    Article  Google Scholar 

  • Udomsangpetch, R., Sueblinvong, T., Pattanapanyasat, K., Dharmkrong-at, A., Kittikalayawong, A., and Webster, H.K., 1993, Alteration in cytoadherence and rosetting of Plasmodium falciparum-infected thalassemic red blood cells. Blood 82 3752–3759.

    PubMed  CAS  Google Scholar 

  • Underhill, P.A., Passarino, G., Lin, A.A., Marzuki, S., Oefner, P.J., Cavali-Sforza, L.L., and Chambers, G.K., 2001, Maori origins, Y chromosome haplotypes and implications for human history in the Pacific. Hum. Mut. 17 271–280.

    Article  PubMed  CAS  Google Scholar 

  • Wrong, O., Bruce, L.J., Unwin, R.J., Toye, A.M., and Tanner, M.J., 2002, Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Kidney Int. 62 10–19.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2003 Springer Science+Business Media New York

About this chapter

Cite this chapter

Marzuki, S., Sudoyo, H., Suryadi, H., Setianingsih, I., Pramoonjago, P. (2003). Human Genome Diversity and Disease on the Island Southeast Asia. In: Marzuki, S., Verhoef, J., Snippe, H. (eds) Tropical Diseases. Advances in Experimental Medicine and Biology, vol 531. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0059-9_1

Download citation

  • DOI: https://doi.org/10.1007/978-1-4615-0059-9_1

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-4905-1

  • Online ISBN: 978-1-4615-0059-9

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics