A review on the origin and spread of deleterious mutants of the β-globin gene in Indian populations

HOMO- Journal of Comparative Human Biology

Volumn 52, Issue 2, 2001, Pages 93-109

  Das, Swapan Kumar ^a,b   Talukder, Geeta ^b  

^a CENTRAL ARKANSAS VETERANS HEALTHCARE SYSTEM   (United States)

^b VIVEKANANDA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

GLOBIN;

BETA THALASSEMIA; COMMERCIAL PHENOMENA; EVOLUTION; GENETIC POLYMORPHISM; GENETICS; GEOGRAPHY; HUMAN; INDIA; INNATE IMMUNITY; MALARIA; MIGRATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; POLITICS; POPULATION GENETICS; REVIEW; SOCIAL STATUS;

BETA-THALASSEMIA; COMMERCE; DNA MUTATIONAL ANALYSIS; EMIGRATION AND IMMIGRATION; EVOLUTION; GENETICS, POPULATION; GEOGRAPHY; GLOBINS; HUMANS; IMMUNITY, NATURAL; INDIA; MALARIA; POLITICS; POLYMORPHISM, GENETIC; SOCIAL CONDITIONS;

EID: 0035753755     PISSN: 0018442X     EISSN: None     Source Type: Journal    
DOI: 10.1078/0018-442X-00022     Document Type: Article

References (112)

1. Agarwal S, Naveed M, Gupta UR, Kishore P, Agarwal SS (1994) Characterization of β-thalassaemia mutations in 57 β-thalassaemia families seen at Lucknow. Ind J Med Res 100: 106-110.
2. Agarwal S, Hattori Y, Gupta UR, Gambhir D, Agarwal SS (1997) Novel beta thalassaemia mutations in Asian Indians. Blood 90, (Abstract 2838, Annual meeting of American Society of Hematology), Suppl. 1, Part 2, 33b.
3. Allison AC (1954) Protection afforded by Sickle-cell trait against subtertian malarial infection. Br Med J 1: 290.
4. Allison AC (1965) Population genetics of abnormal haemoglobins and glucose-6-phosphate dehydrogenase deficiency. In Jonix JHP (ed) Abnormal Haemoglobins in Africa. Blackwell Scientific Publications, Oxford, 365.
5. E globin gene in South Asia. Proc Nat Acad Sci USA 79: 6608-6611.
6. Astolfi P, Lisa A, Degioanni A, Tagarelli A, Zei G (1999) Past malaria, thalassaemia and women fertility in southern Italy. Ann Hum Biol 26: 163-173.
7. Audic S, Beraud-Colomb E (1998) Ancient DNA. Symposium abstract L-31, DAE symposium on recent advances in genetic epidemiology and population monitoring, March 23-26, 1998, Chenni.
8. Balgir RS (1996) Genetic epidemiology of the three predominant abnormal hemoglobins in India. JAPI 44: 25-28.
9. Beraud-Colomb E, Roubin R, Martin J, Maroc N, Gardeisen A, Trabuchet G, Goossens M (1995) Human beta-globin gene polymorphisms characterized in DNA extracted from ancient bones 12,000 years old. Am J Hum Genet 57: 1267-1274.
10. Boehm CD, Antonarakis SE, Phillips III JA, Stetten G, Kazazian jr. HH (1983) Prenatal diagnosis using DNA polymorphisms: Report of 95 preganacies at risk for sickle cell or β-thalassaemia. N Engl J Med 308: 1052-1058.
11. Borts RH, Haber JE (1987) Meiotic recombination in yeast: alteration by multiple heterozygosities. Science 237: 1459-1463.
12. Borts RH, Haber JE (1990) Length and distribution of meiotic gene conversion tracts and crossovers in Saccharomyces cerevisiae. Genetics 123: 69-80.
13. Brittenham GM (1988) Globin gene variants and polymorphisms in India. In Winter WP (ed) Haemoglobin Variants in Human Populations. Vol. II, CRC Press Inc., Florida, 79-109.
14. Brockelman C, Wongsattayanont B, Tan-Ariya P, Fucharoen S (1987) Thalassaemia erythrocytes inhibit in vitro growth of Plasmodium falciparum. J Clin Microbiol 25: 56-60.
15. Carcassi V, Ceppellini R, Pitzus F (1957) Frequenza della talassemia in quattro popolazioni sarde e suoi rapporti con la distribuzione dei gruppi sanguini e della malaria. Boll 1st Sieroter Mil 36: 206.
16. Chakravarti A, Buetone KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH (1984) Nonuniform recombination within the human beta globin gene. Am J Hum Genet 36: 1239-1258.
17. Charmot-Bensimon D (1999) Human globin genes: what can we learn from their polymorphism? Bull Soc Pathol Exot 92: 242-248.
18. Chatterjea JB (1964) Malaria and Haemoglobin E. Lancet Nov. 28: 1185.
19. Clegg JB, Weatherall DJ (1999) Thalassaemia and malaria: new insights into an old problem. Proc Assoc Am Physicians 111: 278-282.
20. Cooper DM, Krawczak M (1993) Human Gene Mutation. Bios Scientific Publishers Ltd., Oxford, UK.
21. Crow JF (1999) The odds of losing at genetic roulette. Nature 397: 293-294.
22. Das SK, De M, Bhattacharya DK, Talukder G, Srividhya R, Dighe N, Brahmachari SK (1998) Study of β-globin gene polymorphisms in Eastern India. J Viv Inst Med Sci 21: 3-5.
23. Das SK, Talukder G (1999) Variations of beta globin gene associated with human disease. J Viv Inst Med Sci 22: 21-41.
24. Das SK, De M, Bhattacharya DK, Sengupta B, Das N, Talukder G (2000) Interaction of different haemoglobinopathies in Eastern India with a view to establish genotype-phenotype correlation. Am J Hum Biol 12: 454-459.
25. De M, Das SK, Bhattacharya DK, Talukder G (1997a) The occurrence of β-thalassaemia mutation and its interaction with haemoglobin E in Eastern India. Int J Hematol 66: 31-34
26. De M, Chakraborty G, Das SK, Bhattacharya DK, Talukder G (1997b) Molecular studies of haemoglobin E in tribal populations of Tripura. Lancet 349: 1297.
27. Deka R (1975) Fertility and Haemoglobin Genotypes: A Population Study in Upper Assam. Ph. D. Thesis, Dibrugarh University.
28. Deka R, Reddy AP, Mukherjee BM, Banerjee S, Roy M, Dey B, Malhotra KC, Walter H (1988) Hemoglobin E distribution in ten endogamous population groups of Assam, India. Hum Hered 38: 261-266.
29. Destro Bisol G (1999) Genetic resistance to malaria, oxidative stress and hemoglobin oxidation.Parasitologia 41: 203-204.
30. Eyre-Walker A, Keightley PD (1999) High genomic deleterious mutation rates in hominids. Nature 397: 344-347.
31. Faerman M, Nebel A, Filon D, Thomas MG, Bradman N, Ragsdale BD, Schultz M, Oppenheim A (2000) From a dry bone to a genetic portrait: A case study of sickle cell anemia. Am J Phys Anthrop 111: 153-163.
32. Flatz G, Pik C, Sundharagiati B (1964) Malaria and haemoglobin E in Thailand. Lancet 2: 385.
33. Flatz G, Pik C, Sringam S (1965) Haemoglobin E and β-thalassaemia: their distribution in Thailand. Ann Hum Genet 29: 151-170.
34. Flatz G (1967) Haemoglobin E: distribution and population dynamics. Humangenetik 3: 189-234.
35. Flatz G (1978) Population dynamics of haemoglobinopathies in South East Asia. In Verma IC, Puri RK (eds) Medical Genetics in India. Vol. 2, Auroma Enterprises, Pondichary, 191-196
36. Flint J, Harding RM, Boyce AJ, Clegg JB (1993a) The population genetics of the Haemoglobinopathies. In Higgs DR, Weatherall DJ (eds) Bailliere's Clinical Haematology. Vol. 6: The Haemoglobinopathies. Bailliere Tindall, London, 215-262.
37. Flint J, Harding RM, Clegg JB, Boyce A (1993b) Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. Hum Genet 91: 91-117
38. Friedman MJ (1979) Oxidant damage mediates variant red cell resistance to malaria. Nature 280: 245-247.
39. Fucharoen S, Fucharoen G, Jetsrisuparb A, Fukumaki Y (1990) Molecular basis of HbE-β thalassaemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimen. Biophys Res Commun 170: 698-704.
40. Fullerton SM, Harding RM, Boyce AJ, Clegg JB (1994) Molecular and population genetic analysis of allelic sequence diversity at the human β-globin locus. Proc Natl Acad Sci 91: 1805-1809.
41. Fullerton SM (1996) Allelic sequence diversity at the β-globin locus. In Boyce AJ, Mascie-Taylor CGN (eds) Molecular Biology and Human Diversity. Cambridge University Press, UK, 225-241.
42. Fukumaki Y, Fucharoen S (1991) Generation and spread of globin gene mutations in populations:?-thalassaemia in Asian countries. In: Kimura M, Takahata N (eds) New aspects of the genetics of molecular evolution. Springer-Verlag, Berlin, 153-176.
43. Ghosh Dastidar D, Dutta RN, Gupta P, Old JM (1994) Detection of β-thalassaemia mutations in Eastern Indian population by polymerase chain reaction. Ind J Med Res 100: 111-114.
44. Gilles HM, Fletcher KA, Hendrickse RG, Linder R, Reddy S, Allan N (1967) Glucose-6-phosphate dehydrogenase deficiency, sickling and malaria in African children in South Westen Nigeria. Lancet i: 138.
45. Haldane JBS (1948) The rate of mutation of human genes. Proceedings of the International congress on Genetics. Hereditas Suppl. 35: 267-273.
46. Harding RM, Fullerton SM, Griffiths RC, Bond J, Cox MJ, Schneider JA, Moulin DS, Clegg JB (1997) Archaic African and Asian lineages in the genetic ancestry of modern humans. Am J Hum Genet 60: 772-789.
47. Henthorn PS, Mager DL, Huisman THJ, Smithies O (1986) A gene deletion ending within a complex array of repeated sequences 3′ to the human β-globin gene cluster. Proc Nat Acad Sci USA 83: 5194-5198.
48. Henthorn PS, Smities O, Mager DL (1990) Molecular analysis of deletions in the human?-globin gene cluster: deletion junctions and locations of breakpoints. Genomics 6: 226-237.
49. Hill AVS, Bowden DK, O'Snaughnessy DF, Weatherall DJ, Clegg JB (1988) β-thalassaemia in Melanesia: association with malaria and characterization of a common variant (IVS-1nt5 G → C). Blood 72: 9-14.
50. Hill AVS (1996) Some attempts at measuring natural selection by malaria. In Boyce AJ, Mascie-Taylor CGN (eds) Molecular Biology and Human Diversity. Cambridge University Press, UK, 81-92.
51. Huisman THJ, Carver MHF, Baysal E (1997) A Syllabus of Thalassaemia Mutations. The sickle cell anaemia foundation, Augusta, GA.
52. Huisman THJ, Carver MHF, Efremov GD (1998) Human Haemoglobin Variants. 2nd ed, Sickle cell anaemia foundation, Augusta, GA.
53. Hundrieser J, Deka R, Gogoi BC, Papp T, Flatz G (1988) DNA haplotypes and frameworks associated with the β-globin gene in the Kachari population of Assam (India). Hum Hered 38: 240-245.
54. Hutagalung R, Wilairatana P, Looareesuwan S, Brittenham GM, Aikawa M, Gordeuk VR (1999) Influence of Hemoglobin E Trait on the severity of Falciparum malaria. J Infect Dis 179: 283-286.
55. Hutagalung R, Wilairatana P, Looareesuwan S, Brittenham GM, Gordeuk VR (2000) Influence of Hemoglobin F. Trait on the Antimalarial Effect of Artemisinin Derivatives. J Infect Dis 181: 1513-1516.
56. Ifediba TC, Stern A, Ibrahim A, Rieder RF (1985) Plasmodium falciparum in vitro: Diminished growth in hemoglobin H disease erythrocytes. Blood 65: 452-455.
57. Iswad CS, Naik SN (1984) cited in Bhatia HM, Rao VR (eds) Genetic Atlas of Indian Tribes. ICMR, Bombay (1986).
58. Jagadeeswaran P, Tuan D, Forget BG, Weissman SM (1982) A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin. Nature 296: 469-470.
59. E globin gene. Am J Hum Genet 36: 212-217.
60. Kazazian jr. HH, Dowling CE, Hurwitz RL, Coleman M, Adams III JG (1989) Thalassaemia mutations in exon 3 of the β-globin gene often cause a dominant form of thalassaemia and show no predilection for malarial-endemic region of the world. Am J Hum Genet 45: A 242.
61. Kazazian jr. HH, Dowling CE, Hurwitz RL, Coleman M, Stopeck A, Adams III JG (1992) Dominant thalassaemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene. Blood 79: 3014-3018.
62. Kruatrachue M, Bhaibulaya M, Klongkamnuanahara K, Harinasuta C (1969) Haemoglobinopathies and malaria in Thailand. Bull WHO 40: 459.
63. Kruatrachue M, Sriripanich B, Sandudee N (1970) Haemoglobinopathies and malaria in Thailand: a comparison of morbidity and mortality rates. Bull. WHO 43: 348.
64. Lehmann H, Rollinson DHL (1958) The haemoglobins of 211 cattle in Uganda. Man 62: 1.
65. Lehmann H (1959) The maintenance of the haemoglobinopathies at high frequency. A consideration of the relationship between sickling and malaria and of allied problems. In Jonxis JHP, Delafresnaye JF (eds) Abnormal Haemoglobin. Blackwell Scientific Publications, Oxford, 307.
66. Livingstone FB (1967) Abnormal Hemoglobins in Human Populations . Aldine, Chicago.
67. Livingstone FB (1971) Malaria and human polymorphisms. Ann Rev Genet 5: 33.
68. Livingstone FB (1985) Frequencies of Haemoglobin Variants. Oxford University Press, Oxford.
69. S globin gene. Am J Hum Biol 1: 289-302.
70. Luzzi GA, Merry AH, Newbold CI, Marsh K, Pasvol G, Weatherall DJ (1991) Surface antigen expression on Plasmodium falciparum-infected erythrocytes is modified in alpha-and beta-thalassaemia. J Exp Med 173: 785-791.
71. Majumder PP, Roy B, Balgir RS, Dash BP (1999) Polymorphisms in the β-globin gene cluster in some ethnic populations of India and their implications on disease. In: Gupta S, Sood OP (eds) Molecular Intervention in Disease. Ranbaxy Science Foundation, New Delhi, 75-83.
72. Majumder PP (2000) Human genome diversity studies in India: organisation and same recent findings. Symposium abstract, GenoMeet 2000, CBT, New Delhi, P-42.
73. Martiney JA, Cerami A, Slater AF (1996) Inhibition of hemozoin formation in Plasmodium falciparum trophozoite extracts by heme analogs: possible implication in the resistance to malaria conferred by the β-thalassaemia trait. Mol Med 2: 236-246.
74. McGuire W, Hill AVS, Allsopp CEM, Greenwood BM, Kwiatkowski D (1994) Variation in the TNF - A promotor region associated with susceptibility to cerebral malaria. Nature 371: 508-511.
75. Michelson AM, Orkin SH (1983) Boundaries of gene conversion within the duplicated human α-globin genes. J Biol Chem 258: 15245-15254.
76. Mukherjee BN, Das MK (1990) Spatial distribution of two predominant abnormal haemoglobins HbE and HbS in Indian subcontinent. J Indian Anthrop Soc 25: 39-59.
77. Myint-Do, Upston JM, Gero AM, O'Sullivan WJ (1993) Reduced transport of adenosine in erythrocytes from patients with β-thalasaemia. Int J Parasitol 23: 303-307.
78. Nagel RL, Ranney HM (1990) Genetic epidemiology of structural mutations of the β-globin gene. Sem hematol 27: 342-359.
79. Nagel RL (1990) Innate resistance to malaria: the intraerythrocytic cycle. Blood cells 16: 321-339.
80. 0-thalassaemia begins in an inverted repeat. Nature 300: 770-771.
81. Papadakis MN, Patrinos GP (1999) Contribution of gene conversion in the evolution of the human beta-like globin gene family. Hum Genet 104: 117-125.
82. Pasvol G, Weatherall DJ, Wilson RJM, Smith GH, Gilles HM (1976) Fetal haemoglobin and malaria. Lancet 11: 1269.
83. Pasvol G, Weatherall DJ, Wilson RJM (1977) The effects of fetal haemoglobin on susceptibility of human red cells to P. falciparum. Nature 270: 171.
84. Pasvol G (1978) Fetal Haemoglobin and Malaria. D. Phil thesis, University of Oxford.
85. Pattanapanyasat K. Yongvanitchit K, Tongtawe P, Tachavanich K, Wanachiwanawin W, Fucharoen S, Wash DS (1999) Impairment of Plasmodium falciparum growth in thalassaemic red blood cells: further evidence by using biotin labelling and flow cytometry. Blood 93: 3116-3119.
86. Perutz MF (1990) Frequency of abnormal human haemoglobins caused by c → transitions in CpG dinucleotides. J Mol Biol 213: 203-206.
87. Plato CC, Rucknagel DL, Gershowitz H (1964) Studies on the distribution of glucose-6-phosphate dehydrogenase deficiency, thalassaemia and other genetic traits in the coastal and mountain villages of Cyprus. Am J Hum Genet 16: 267.
88. Radding CM (1978) Genetic recombination, strand transfer and mismatch repair. Ann. Rev Biochem 47: 847-880.
89. 2 77(EF1) His?Arg: the first example of a somatic cell mutation in globin gene. Hum Genet 97: 829-833.
90. Rotter JI, Diamond JM (1987) What maintains the frequencies of human genetic diseases? Nature 329: 289-290.
91. Santiyanant R, Wilairat P (1981) Red cells containing hemoglobin E do not inhibit malaria parasite development in vitro. Am J Trop Hyg 30: 541-543.
92. Senok AC, Li K, Nelson EA, Yu LM, Tian LP, Oppenheimer SJ (1997) Invasion and growth of Plasmodium falciparum is inhibited in fractionated thalassaemic erythrocytes. Trans R Trop Med Hyg 91: 138-143.
93. Senok AC, Li K, Nelson EA, Arumanayagam M, Li CK (1998) Flow cytometric assessment of oxidant stress in age-fractionated thalassaemic trait erythrocytes and its relationship to in vitro growth of Plasmodium falciparum. Parasitology 116: 1-6.
94. Shear HL (1993) Transgenic and mutant animal models to study mechanisms of protection of red cell genetic defects against malaria. Experentia 49: 37-42.
95. Shear HL, Grienberg L, Gilman J, Fabry ME, Stamatoyannopoulos G, Goldberg DE, Nagel RL (1998) Transgenic mice expressing human fetal globin are protected from malaria by a novel mechanism. Blood 92: 2520-2526.
96. Shiokawa P, Fucharoen SP, Fucharoen G, Tomatsu S, Fukumaki Y (1989) Heterogeneity of the ?-globin gene sequences in Japanese individuals: implications of gene conversion in generation of polymorphisms. J Biochem 105: 184-189.
97. Singh KS (1992) People of India: An Introduction. Anthropological Survey of India, Calcutta.
98. Simscalco M, Bernini L, Filippi G, Late B, Khan M, Piomelli S, Rattazzi M (1966) Population Genetics of haemoglobin variants, thalassaemia and glucose-6-phosphate dehydrogenase deficiency, with particular reference to the malaria hypothesis. Bull WHO 34: 379.
99. Slightom JL, Blechl AE, Smithies O (1980) Human fetal Gγ and Aγ globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell 21: 627-638.
100. Smith RA, Ho PJ, Clegg JB, Kidd JR, Thein SL (1998) Recombination breakpoints in the human ?-Globin gene cluster. Blood, 92: 4415-4421.
101. Starck J, Bouhass R, Morle F, Godet J (1990) Extent and high frequency of a short conversion between the human Aγ and Gγ fetal globin genes. Hum Genet 84: 179-184.
102. Strachan T, Read AP (1996) Human Molecular Genetics. Bios, Oxford, UK, 241-273.
103. Talukder G, Sharma A (1994) Hemoglobinopathies in India. In Bhasin V (ed) People, Health and Disease: The Indian Scenario. Hum Ecol Spec Issue 3: 125-130.
104. Udomsangpetch R, Sueblinvong T, Pattanapanyasat K, Dharmkrong-at A, Kittikalayawong A, Webster HK (1993) Alteration in cytoadherence and resetting of Plasmodium falciparum -infected thalassemic red blood cells. Blood 82: 3752-3759.
105. Vanin EF, Henthorn PS, Kioussis D, Grosveld F, Smithies O (1983) Unexpected relationships between four large deletions in the human β-globin gene cluster. Cell 35: 701-709.
106. Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ (1991) The spectrum of β-thalassaemia mutations on the Indian Subcontinent: the basis for prenatal diagnosis. Brit J Haematol 78: 242-247.
107. Varawalla NY, Fitches AC, Old JM (1992) Analysis of β-globin gene haplotypes in Asian Indians: Origin and spread of β-thalassaemia on the Indian subcontinent. Hum.Genet 90: 443-449.
108. Venkatesan R, Sarkar R, Old JM (1992) Ι-thalassaemia mutations and their linkage to Ι-haplotypes in Tamil Nadu in Southern India. Clin Genet 42: 251-256.
109. Verma IC, Saxena R, Thomas E, Jain PK (1997) Regional distribution of ?-thalassaemia mutations in India. Hum Genet 100: 109-113.
110. Vezzoso B (1946) Influenza della malaria sulla mortalia infantile per anemia can speciale riguardo al morbo di Cooly. Riv Malariol 25: 61.
111. Wainscoat JS, Hill AVS, Boyce AL, Flint J, Hernandez M, Thein SL, Old JM, Lynch JR, Falusi AG, Weatherall DJ, Clegg JB (1986) Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms. Nature 319: 491-493.
112. Zeng YT, Huang SZ (1987) Disorders of haemoglobin in China. J Med Genet 24: 578-583.