A Chinese β+-thalassemia gene in a new haplotype was chosen for cloning and sequencing. The mutation identified was an A-G transition at position-29 in the TATA box of the β-globin gene. This mutation has not been seen previously in Chinese but has been documented in American blacks on a different chromosomal background. This observation provides further evidence for independent origins of the same mutation in distinct ethnic groups.
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Antonarakis SE, Boehm CD, Giardina PJV, Kazazian HH Jr (1982) Nonrandom association of polymorphic restriction sites in the β-globin gene cluster. Proc Natl Acad Sci USA 79:137–141
Antonarakis SE, Orkin SH, Cheng T-c, Scott AF, Sexton JP, Trusko S, Charache S, Kazazian HH Jr (1984) β-Thalassemia in American blacks: novel mutations in the TATA box and an acceptor splice site. Proc Natl Acad Sci USA 81:1154–1158
Atweh GF, Hsu H, Forget BG (1984) A new IVS-1 position 5 mutation resulting in β0-thalassemia in Mediterraneans. Blood [Suppl] 64:55A (abstr)
Bunn HF, Forget BG (1986) Hemoglobin: molecular, genetic and clinical aspects. Saunders, Philadelphia, pp 223–303
Chang JC, Kan YW (1979) β0-Thalassemia, a nonsense mutation in man. Proc Natl Acad Sci USA 76:2886–2889
Chehab FF, Honig GR, Kan YW (1986) Spontaneous mutation in β-thalassemia producing the same nucleotide substitution as that in a common hereditary form. Lancet I:3–5
Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJV, Li A, Kazazian HH Jr (1984) β-Thalassemia in Chinese: use of in vitro RNA analysis and oligonucleotide hybridization in systemic characterization of molecular defects. Proc Natl Acad Sci USA 81:2821–2825
Huang S, Lo WHY, Wu GY, Wang MQ, Kazazian HH Jr, Waber PG (1985) β-Thalassemia in Chinese: analysis of polymorphic restriction site haplotypes in the β-globin gene cluster. Chin Med J [Engl] 98:81–86
Kazazian HH Jr, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG (1984) Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J 3:593–596
Kimura A, Matsunaga E, Takihara Y, Nakamura T, Takagi Y, Lin ST, Lee HT (1983) Structural analysis of a β-thalassemia gene found in Taiwan. J Biol Chem 258:2748–2749
Nagel RL, Fabry ME, Pagnier J, Zohoun I, Wajcman H, Baudin V, Labie D (1985) Hematologically and genetically distinct forms of sickle cell anemia in Africa. N Engl J Med 312:880–884
Orkin SH, Kazazian HH Jr (1984) The mutation and polymorphism of the human β-globin gene and its surrounding DNA. Annu Rev Genet 18:131–171
Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJV (1982) Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in the human β-globin gene cluster. Nature 296:627–631
Orkin SH, Sexton JP, Cheng TC, Goff SC, Giardina PJV, Lee JI, Kazazian HH Jr (1983) TATA box transcription mutation in β-thalassemia. Nucleic Acids Res 11:4721–4734
Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 74:5463–5467
Serjeant GR (1974) The clinical features of sickle cell anemia. American Elsevier, New York
Wong C, Antonarakis SE, Goff SH, Orkin SH, Boehm CD, Kazazian HH Jr (1986) On the origin and spread of β-thalassemia: recurrent observation of four mutations in different ethnic groups. Proc Natl Acad Sci USA (in press)
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Huang, S., Wong, C., Antonarakis, S.E. et al. The same “TATA” box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation. Hum Genet 74, 162–164 (1986). https://doi.org/10.1007/BF00282081
- Internal Medicine
- Ethnic Group
- Metabolic Disease
- Independent Origin