Two rare mutations in Turkey: IVS I.130(G-C) and IVS II.848(C-A)

Clinical and Laboratory Haematology

Volumn 27, Issue 4, 2005, Pages 274-277

  Nal, N ^a   Manguoglu, A E ^a   Sargin, C F ^a   Keser, Ibrahim ^a   Kupesiz, A ^a   Yesilipek, A ^a   Luleci, G ^a  

^a AKDENIZ UNIVERSITY   (Turkey)

Author keywords

Thalassemia; HbS Thalassemia; IVS I. 130 (G C); IVS II. 848 (C A); Rare mutations

Indexed keywords

BETA GLOBIN;

ARTICLE; BETA GLOBIN GENE; BETA THALASSEMIA; CASE REPORT; DNA ISOLATION; DNA SEQUENCE; DOT HYBRIDIZATION; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TURKEY (REPUBLIC);

BETA-THALASSEMIA; CHILD; DNA; HEMOGLOBIN, SICKLE; HUMANS; MALE; POINT MUTATION; SEQUENCE ANALYSIS, DNA; TURKEY;

EID: 23444435238     PISSN: 01419854     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2257.2005.00691.x     Document Type: Article

References (15)

1. Altay C. & Basak A.N. (1995) Molecular basis and prenatal diagnosis of hemoglobinopathies in Turkey. International Journal of Pediatric Hematology/Oncology 2, 283-290.
2. Altay C., Yilgor E., Beksac S. & Gurgey A. (1996) Premarital screening of hemoglobinopathies: a pilot study in Turkey. Human Heredity 46, 112-114.
3. Altay C., Oner C., Oner R., Mesci L., Balkan H., Tuzmen S., Basak A.N., Gumruk F. & Gurgey A. (1997) Genotype-phenotype analysis in HbS-beta-thalassemia. Human Heredity 47, 161-164.
4. Bircan I., Sisli S., Guven A., Cali S., Yegin O., Ertug H., Guven A.G. & Akar N. (1993) Hemoglobinopathies in the district of Antalya, Turkey. Pediatric Haematology and Oncology 10, 289-291.
5. Cai S.P., Wall J., Kan Y.W. & Chehab F.F. (1994) Reverse dot blot probes for the screening of beta-thalassemia in Asians and American Blacks. Human Mutation 3, 59.
6. Hardison R., Reimer C., Chui D.H., Huisman T.H. & Miller W. (1998) Electronic access to sequence alignments, experimental results and human mutation and aid to studying globin gene. Genomics 47, 429-437.
7. Huisman T.H.J., Carver M.F.H. & Baysal E. (1997) A Syllabus of Thalassemia Mutations. The Sickle Cell Anemia Foundation, Augusta, GA.
8. Keser I., Kayisli O.G., Yesilipek A., Ozes O.N. & Luleci G. (2001) Hb Antalya [codon 3-5 (Leu-Thr-Pro → Ser-Asp-Ser)]: a new unstable variant leading to chronic microcytic anemia and high Hb A2. Hemoglobin 25, 369-373.
9. Keser I., Sanlioglu A.D., Manguoglu E., Guzeloglu Kayisli O., Nal N., Sargin F., Yesilipek A., Simsek M., Mendilcioglu I., Canatan D. & Luleci G. (2004) Molecular analysis of beta-thalassemia and sickle cell anemia in Antalya. Acta Haematologica, 111, 205-210.
10. Miller S.A. & Dykes D.D. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 16, 1215.
11. Oner R., Altay C., Gurgey A., Aksoy M., Kilinc Y., Stoming T.A., Reese A.L., Kutlar A., Kutlar F. & Huisman T.H.J (1990) Beta-thalassemia in Turkey. Hemoglobin 14, 1-13.
12. Tadmouri G.O., Tuzmen S., Ozcelik H., Ozer A., Baig S.M., Senga E.B. & Basak A.N. (1998) Molecular and population genetic analysis of beta-thalassemia in Turkey. American Journal of Hematology 57, 215-220.
13. Tadmouri G.O., Bilenoglu O., Kantarci S., Kayserili H., Perrin P. & Basak A.N. (2000) A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient. American Journal of Hematology 63, 223-225.
14. Weatherall D.J. & Clegg J.B. (1981) The Thalassemia Syndromes, 3rd edn. Blackwell Scientific Publications, Oxford, UK.
15. Wong C., Antonarakis S.E., Goff S.C., Orkin S.H., Forget B.C., Nathan D.G., Giardina P.J.V. & Kazazian H.H. Jr (1989) Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene. Blood 73, 914.