An IVS1-116 (A→G) acceptor splice site mutation in the α2 globin gene causing α+ thalassaemia in two Dutch families

British Journal of Haematology

Volumn 95, Issue 3, 1996, Pages 461-466

  Harteveld, C L ^a   Heister, J G A M ^a   Giordano, P C ^a   Batelaan, D ^a   Delft, P V ^a   Haak, H L ^b   Wijermans, P W ^b   Losekoot, M ^a   Bernini, L F ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

^b LEYENBURG HOSPITAL   (Netherlands)

Author keywords

Abnormal splicing; Acceptor splice site; Mutation; Globin gene; Thalassaemia

Indexed keywords

HEMOGLOBIN ALPHA CHAIN; DNA; GLOBIN; RNA;

ALPHA THALASSEMIA; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GLOBIN GENE; HUMAN; HUMAN TISSUE; MALE; PRIORITY JOURNAL; DNA SEQUENCE; GENETICS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

ALPHA-THALASSEMIA; BLOTTING, SOUTHERN; DNA; GLOBINS; HUMANS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RNA; RNA SPLICING; SEQUENCE ANALYSIS, DNA; SEQUENCE ANALYSIS, RNA;

EID: 0029658732     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1996.d01-1926.x     Document Type: Article

References (29)

1. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. (1990) Basic local alignment search tool. Journal of Molecular Biology, 215, 403-410.
2. Baserga, S.J. & Benz, E.J. (1988) Nonsense mutations in the human β-globin gene affect mRNA metabolism. Proceedings of the National Academy of Sciences of the United States of America, 85, 2056-2060.
3. Berget, S.M. (1995) Exon recognition in vertebrate splicing. Journal of Biological Chemistry, 270, 2411-2414.
4. Breathnach, R. & Chamhon, P. (1981) Organization and expression of eucaryotic split genes coding for proteins. Annual Reviews of Biochemistry, 50, 349-383.
5. Brunak, S., Engelbrecht, J. & Knudsen, S. (1991) Prediction of human mRNA donor and acceptor sites from the DNA sequence. Journal of Molecular Biology, 220, 49-65.
6. Chelly, J., Gilgenkrantz, H., Lambert, M., Hamard, G., Chafey, P., Récan, D., Katz, P., de la Chapelle, A., Koenig, M., Ginjaar, I.B., Fardeau, M. Tomé, F., Kahn, A. & Kaplan, J.C. (1990) Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell, 63, 1239-1248.
7. Çürük, M.A., Baysal, E., Gupta, R.B., Sharma, S. & Huisman, T.H.J. (1993) An IVSI-117 (G → A) acceptor splice site mutation in the α1-globin gene is a nondeletional α-thalassaemia-2 determinant in an Indian population. British Journal of Haematology, 85, 148-152.
8. Daar, I.O. & Maquat, L.E. (1988) Premature translation termination mediates triosephosphate isomerase mRNA degradation. Molecular and Cellular Biology, 8, 802-813.
9. Dacie, J.V. & Lewis, S.M. (1991) Practical Haematology, 7th edn, Churchill Livingstone, Edinburgh.
10. Dodé, C., Rochette, J. & Krishnamoorthy, R. (1990) Locus assignment of human α-globin mutations by selective amplification and direct sequencing. British Journal of Haematology, 76, 275-281.
11. Gupta, R.B., Tiwary, R.S., Pande, P.L., Kutlar, F., Öner, C., Öner, R. & Huisman, T.H.J. (1991) Hemoglobinopathies among the Gond tribal groups of Central India: interaction of α- and β-thalassemia with β chain variants. Hemoglobin, 15, 441-458.
12. Harteveld, C.L., Losekoot, M., Heister, J.G.A.M., Hank, H., Giordano, P.C. & Bernini, L.F. (1994) A novel polyadenylation signal mutation in the α2-globin gene causing α-thalassaemia. British Journal of Haematology, 87, 139-143.
13. Harteveld, C.L., Heister, J.G.A.M., Giordano, P.C., Losekoot, M. & Bernini, L.F. (1996) Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA. Human Mutation, 7, 114-122.
14. Higgs, D.R. (1993) Alpha-thalassemia. Bailliere's Clinical Haematology: The Haemoglobinopathies (ed. by D. R. Higgs and D. J. Weatherall). pp. 117-150. Baillière Tindall, London.
15. Higgs, D.R., Goodbourn, S.E.Y., Lamb, J., Clegg, J.B. & Weatherall, D.J. (1993) α-Thalassaemia caused by a polyadenylation signal mutation. Nature 306, 398-400.
16. Higgs, D.R., Wainscoat, J.S., Flint, J., Hill, A.V.S., Thein, S.L., Nicholls, R.D., Teal, H., Ayyub, H., Peto, T.E.A., Falusi, A.G., Jarman, A.P., Clegg, J.B. & Weatherall, D.J. (1986) Analysis of the human α-globin gene cluster reveals a highly informative genetic locus. Proceedings of the National Academy of Sciences of the United States of America, 83, 5165-5169.
17. Hultman, T., Stahl, S., Hornes, E. & Uhlén, M. (1989) Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucleic Acids Research, 17, 4937-4946.
18. Kielman, M.F., Smits, R., Devi, T.S., Fodde, R. & Bernini, L.F. (1993) Homology of a 130-kb region enclosing the α-globin gene cluster, the α-locus controlling region, and two non-globin genes in human and mouse. Mammalian Genome, 4, 314-323.
19. Miller, S.A., Dykes, D.D. & Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 1215.
20. Molchanova, T.P., Pobedimskaya, D.D. & Huisman, T.H.J. (1994) The difference in quantities of α2- and α1-globin gene variants in heterozygotes. British Journal of Haematology, 88, 300-306.
21. Mount, S.M. (1982) A catalogue of splice junction sequences. Nucleic Acids Research, 10, 459-472.
22. Nakai, K. & Sakamoto, H. (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene. 141, 171-177.
23. Orkin, S.H., Goff, S.C. & Hechtman, R.L. (1981) Mutation in an intervening sequence splice junction in man. Proceedings of the National Academy of Sciences of the United States of America, 78, 5041-5045.
24. Padgett, R.A., Grabowski, P.J., Konarska, M.M., Seiler, S. & Sharp, P.A. (1986) Splicing of messenger RNA precursors. Annual Reviews of Biochemistry, 55, 1119-1150.
25. Reed, R. & Maniatis, T. (1985) Intron sequences involved in lariat formation during pre-mRNA splicing. Cell, 41, 95-105.
26. Surdej, P., Riedl, A. & Jacobs-Lorena, M. (1994) Regulation of mRNA stability in development. Annual Reviews of Genetics, 28, 263-282.
27. Weatherall, D.J. & Clegg, J.B. (1981) The Thalassaemia Syndromes. 3rd edn. Blackwell Scientific Publications, Oxford.
28. Weatherall, D.J., Clegg, J.B., Na-Nakorn, S. & Wasi, P. (1969) The pattern of disordered haemoglobin synthesis in homozygous and heterozygous β-thalassaemia. British of Haematology, 16, 251.
29. Yüregir, G.T., Aksoy, K., Çürük, M.A., Dikmen, N., Fei, Y.J., Baysal, E. & Huisman, T.H.J. (1992) HbH disease in a Turkish family resulting from the interaction of a deletional α-thalassaemia-1 and a newly discovered poly-A-mutation. British Journal of Haematology, 80, 527-532.