Identification of three rare β-thalassemia mutations in the Pakistani population

Hemoglobin

Volumn 24, Issue 1, 2000, Pages 15-22

  Khan, S N ^a   Riazuddin, S ^a   Galanello, R ^b  

^a UNIVERSITY OF THE PUNJAB   (Pakistan)

^b UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN;

ARTICLE; BETA THALASSEMIA; CHROMOSOME MUTATION; CODON; FRAMESHIFT MUTATION; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; PAKISTAN; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0034012656     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630260009002269     Document Type: Article

References (22)

1. Huisman, T.H.J., Carver, M.F.H., and Baysal, E.: A Syllabus of Thalassemia Mutations (1997), The Sickle Cell Anemia Foundation, Augusta, GA, USA, 1997 (http://globin.cse. psu.edu).
2. Rafique, B.: Haemoglobinopathies (thalassaemia). Review and analysis of 1510 cases. Pak. Paediatr. J., 14:85-95, 1990.
3. Khattak, M.F. and Saleem, M.: Prevalence of heterozygous β-thalassemia in northern areas of Pakistan. J. Pak. Med. Assoc., 43:32-34, 1992.
4. Suhaib, A., Petrou, M., and Saleem, M.: Molecular genetics of β-thalassemia in Pakistan, a basis for prenatal diagnosis. Br. J. Haematol., 94:476-482, 1996.
5. Khan, S.N. and Riazuddin, S.: Molecular characterization of β-thalassemia in Pakistan. Hemoglobin, 22:333-345, 1998.
6. Orkin, S.H., Kazazian, H.H., Jr., Antonarakis, S.E., Goff, S.C., Boehm, C.D., Sexton, J.P., Waber, P.G., and Giardina, P.J.V.: Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphism in human β-globin gene cluster. Nature, 296:627-631, 1982.
7. Hongyo, T., Buzard, G.S., Calvert, R.J., and Weghorst, C.M.: Cold SSCP, a simple, rapid and non-radioactive method for optimized single strand conformation polymorphism analysis. Nucleic Acids Res., 21:3637-3642, 1993.
8. Galanello, R., Sollaino, C., Paglietti, E., Barella, S., Perra, C., Doneddu, I., Pirroni, M.G., Maccioni, L., and Cao, A.: α-Thalassemia carrier identification by DNA analysis in the screening for thalassemia. Am. J. Hematol., 59:273-278, 1998.
9. Sutton, M., Bouhassira, E.E., and Nagel, R.L.: Polymerase chain reaction amplification applied to determination of β-like globin gene cluster haplotypes. Am. J. Hematol., 32:66-69, 1989.
10. Varawalla, N.Y., Fitches, A.C., and Old, J.M.: Analysis of β-globin gene haplotypes in Asian Indians, origin and spread of β-thalassemia on the Indian subcontinent. Hum. Genet., 90:443-449, 1992.
11. Gonzalez-Redondo, J.M., Stoming, T.A., Lanclos, K.D., Gu, Y.C., Kutlar, A., Kutlar, F., Nakatsuji, T., Deng, B., Han, I.S., McKie, V.C., and Huisman, T.H.J.: Clinical and genetic heterogeneity in Black patients with homozygous β-thalassemia from the Southeastern United States. Blood, 72:1007-1014, 1988.
12. Jankovic, L., Efremov, G.D., Josifovska, O., Juricic, D., Stoming, T.A., Kutlar, A., and Huisman, T.H.J.: An initiation codon mutation as a cause of a β-thalassemia. Hemoglobin, 14:169-176, 1990.
13. 0-thalassemia results from a single nucleotide deletion. Nucleic Acid Res., 10: 5421-5427, 1982.
14. Wong, C., Antonarakis, S.E., Goff, S.C., Orkin, S.H., Forget, B.G., Nathan, D.G., Giardina, P.J.V., and Kazazian, H.H., Jr.: β-Thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the β-globin gene. Blood, 73:914-918, 1989.
15. Fattoum, S., Guemira, F., Öner, C., Öner, R., Li, H-W., Kutlar, F., and Huisman, T.H.J.: β-Thalassemia, Hb S-β-thalassemia and sickle cell anemia among Tunisians. Hemoglobin, 15: 11-21, 1991.
16. Hussein, I.R., Temtamy, S.A., Ei-Beshlawy, A., Fearon, C., Shalaby, Z., Vassilopoulos, G., and Kazazian, H.H., Jr.: Molecular characterization of β-thalassemia in Egyptians. Hum. Mutat., 2:48-52, 1993.
17. Pirastu, M., Saglio, G., Chang, J.C., Cao, A., and Kan, Y.W.: Initiation codon mutation as a cause of α-thalassemia. J. Biol. Chem., 259:12315-12317, 1984.
18. Dimovski, A., Efremov, D.G., Jankovic, L., Juricic, D., Zisovski, N., Stojanovski, N., Nikolov, N., Petkov, G.T., Reese, A.L., Stoming, T.A., Efremov, G.D., and Huisman, T.H.J.: β-Thalassemia in Yugoslavia. Hemoglobin, 14:15-24, 1990.
19. Beris, Ph., Darbellay, R., Speiser, D., Kirchner, V., and Miescher, P.A.: De novo initiation codon mutation (ATG→ACG) of the β-globin gene causing β-thalassemia in a Swiss family. Am. J. Hematol., 42:248-253, 1993.
20. Wildmann, C., Larondelle, Y., Vaerman, J.L., Eeckels, R., Martiat, P., and Philippe, M.: An Initiation codon mutation as a cause of β-thalassemia in a Belgian family. Hemoglobin, 17: 19-30, 1993.
21. Rund, D., Cohen, T., Filon, D., Dowling, C.E., Warren, T.C., Barak, I., Rachmilewitz, E., Kazazian, H.H., Jr., and Oppenheim, A.: Evolution of a genetic disease in an ethnic isolate, β-thalassemia in the Jews of Kurdistan. Proc. Natl. Acad. Sci. USA, 88:310-314, 1991.
22. Basak, A.N., Ozcelik, H., Ozer, A., Tolun, A., Aksoy, M., Agaoglu, L., Ridolfi, F., Ulukutlu, L., Akar, N., Gurgey, A., and Kirdar, B.: The molecular basis of β-thalassemia in Turkey. Hum. Genet., 89:315-318, 1992.