Summary
Most of the population in certain areas of Melanesia have one α-globin gene deletion (α thal2). It is thought that the high frequencies of α thal2 in this population is due to a selective advantage given by malaria infection to carriers of α thal2. We are interested in neighboring Polynesia which, although adjacent to Melanesia, has always been free of malaria due to the absence of the vector anopheles. We studied 60 Polynesian Samoans and 150 Malaysians by restriction endonuclease gene mapping using Eco RI, Bam HI, and Bgl II and hybridization to 32P-labeled α-globin gene probe. Seven among the 60 (11.7%) Samoans had triplicated α-globin loci type 1, while none had α thal2. On digestion with Bgl II the third α-globin gene was found in an additional 3.7kb fragment in all seven Samoans with triplicated α-globin loci, while digestion with Bam HI produced an abnormal elongated 18.2 kb fragment carrying α-globin genes in addition to the normal 14.5 kb fragment. None of the Polynesian Samoans had α thal2 or α thal1. Only two of the Malaysians had triplicated α-globin loci.
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References
Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D (1980) Two different molecular organization account for the single α-globin gene of the α-thalassemia-2 genotype. J Clin Invest 66:1319–1325
Gajdusek DC, Guiart J, Kirk RL, Carrell RW, Irvine D, Kynoch PAM, Lehmann H (1967) Haemoglobin J. Tongariki (α115 alanine→aspartic acid): The first new haemoglobin variant found in a Pacific (Melanesian) population. J Med Genet 4:1–6
Goossens M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG, Stamatoyannoupoulos G, Kan YW (1980) Triplicated α-globin loci in man. Proc Natl Acad Sci USA 77:518–521
Higgs DR, Old JM, Pressley L, Clegg JB, Weatherall DJ (1980) A novel α-globin gene arrangement in man. Nature 284:632–635
Lie-Injo LE, Herrera AR, Kan YW (1981) Two types of triplicated α-globin loci in humans. Nucleic Acids Res 9:3707–3717
Lie-Injo LE, Solai A, Herrera AR, Nicholaisen L, Kan YW, Wong PW, Hassan K (1982) Hb Bart's level in cord blood and deletions of α-globin genes. Blood 59:370–376
Lie-Injo LE, Herrera AR, Lebo RV, Hassan K, Lopez CG (1985) Gene mapping of Malaysian α thalassemia with α and ζ globin gene probes. Am J Hematol 18:289–296
Old JM, Clegg JB, Weatherall DJ, Booth PB (1978) Haemoglobin J Tongariki is associated with α thalassaemia. Nature 293:319–320
Oppenheimer SJ, Weatherall DJ, Higgs DR, Barker J, Spark RA (1984) α Thalassaemia in Papua New Guinea. Lancet 2:424–426
Pawson IG, Janes C (1981) Massive obesity in a migrant Samoan population. Am J Publ Health 71:508–513
Rigby PWJ, Diekman M, Rhodes C, Berg PJ (1977) Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol 113:237–251
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Taylor JM, Dozy A, Kan YW, Varmus HE, Lie-Injo LE, Ganesan J, Todd D (1974) Genetic lesion in homozygous α-thalassemia (hydrops fetalis). Nature 251:392–393
Thein SL, Al-Hakim I, Hoffbrand AV (1984) Thalassaemia intermedia: A new molecular basis. Br J Haematol 56:333–337
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Lie-Injo, L.E., Pawson, I.G. & Solai, A. High frequency of triplicated α-globin loci and absence or low frequency of α thalassemia in Polynesian Samoans. Hum Genet 70, 116–118 (1985). https://doi.org/10.1007/BF00273068
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DOI: https://doi.org/10.1007/BF00273068