Spectrum of β thalassemia mutations and their linkage to β-globin gene haplotypes in the Indo-Mauritians

American Journal of Hematology

Volumn 63, Issue 1, 2000, Pages 11-15

  Kotea, Navaratnam ^c   Ramasawmy, Rajendranath ^c   Lu, Chang Yong ^a   Fa, Nathalie Sem ^c   Gerard, Nathalie ^a   Beesoon, Sanjay ^c   Ducrocq, Rolande ^a   Surrun, Soondal Koomar ^c   Nagel, Ronald L ^b   Krishnamoorthy, Rajagopal ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c Hopital Robert Debré ^*

Author keywords

thalassemia; Framework; Haplotype

Indexed keywords

BETA GLOBIN;

ARTICLE; BETA THALASSEMIA; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MAURITIUS; PRIORITY JOURNAL;

ALLELES; BETA-THALASSEMIA; GLOBINS; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MAURITIUS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0033975482     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(200001)63:1<11::AID-AJH3>3.0.CO;2-D     Document Type: Article

References (19)

1. Flint J, Harding RM, Boyce AJ, Clegg JB. The population genetics of the haemoglobinopathies. In: Higgs DR, Weatherall DJ, editors. Baillières Clin Haematol 1993;6:215-262.
2. Orkin SH, Kazazian HH, Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardana JV. Linkage of β thalassemia mutations and β globin gene polymorphisms with DNA polymorphisms in human β globin gene cluster. Nature 1982;296:627-632.
3. Kotea N, Ducroq R, Surrun SK, Ramaswamy R, Kok Shun N, Jankee S, Lee Kwai Yan S, Beessoon S, Labie D, Krishnamoorthy R, Nagel RL, Baligadoo S. Abnormal hemoglobins in Mauritius Island. Am J Hematol 1995;48:293-294.
4. Maggio A, Giambona A, Cai SP, Wall J, Kan YW, Chehab C. Rapid and simultaneous typing of hemoglobin S, hemoglobin C and seven Mediterranean β-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily. Blood 1993;81: 239-242.
5. Cai SP, Wall J, Kan YW, Chehab FF. Reverse dot blot probes for the screening of β-thalassemia in Asians and American Blacks. Hum Mutat 1994;3:59-63.
6. Thein SL, Hesketh C, Wallace RB, Weatherall DJ. The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis. Br J Haematol 1998;70:225-231.
7. Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol 1989;32:66.
8. Semenza GL, Dowling CE, Kazazian HH. HinfI polymorphism 3′ to the human β-globin gene detected by the polymerase chain reaction (PCR). Nucleic Acids Res 1989;17:2376.
9. Ghanem N, Girodon E, Vidaud M, Matin J, Fanen P, Plasse F, Goossens M. A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms. Hum Mutat 1992;1:229-239.
10. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977;74:5463-5467.
11. Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ. The spectrum of β-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Br J Haematol 1991;78:242-247.
12. Varawalla NY, Fitches AC, Old JM. Analysis of β-globin gene haplotypes in Asian Indians: origin and spread of β-thalassaemia on the Indian subcontinent. Hum Genet 1992;90:443-449.
13. Kazazian HH, Dowling CE, Waber PG, Huang S, Wilson HYL. The spectrum of β-thalassemia genes in China and Southeast Asia. Blood 1986;68:964-966.
14. Laig M, Sanguansermsri T, Wiangnon S, Hundrieser J, Pape M, Flatz G. The spectrum of β-thalassemia mutations in northern and northeastern Thailand. Hum Genet 1989;84:47-50.
15. Hundrieser J, Deka R, Gogoi BC, Papp T, Flatz G. β Globin gene associated DNA haplotypes and framework in the Kachari population of Assam (India). Hum Heredity 1988;38:211-215.
16. Kotea N, Baligadoo S, Surrun SK, Ramasawmy R, Lu CY, Ducrocq R, Labie D, Krishnamoorthy R, Nagel R.L. Bicentric origin of sickle hemoglobin among the inhabitants of Mauritius Island. Blood 1995; 1:407-415.
17. Jha JC. Early Indian immigration into Mauritius (1834-1842). In: Bissoondoyal, Servansing, editors. Indian labour immigration. Moka, Mauritius: Mahatma Gandhi Institute; 1986.
18. Manrakhan J. Examination of certain aspects of the slavery indentured continuum in Mauritius. In: Bissoondoyal, Servansing, editors. Indian labour immigration. Moka, Mauritius: Mahatma Gandhi Institute; 1986.
19. Lutz W, Wils AB. The demographic discontinuities of Mauritius. In: Lutz W, Toth FL, editors. Population, economy and environment in Mauritius. Moka, Mauritius: University of Mauritius; 1991.