Identification of the four most common β-globin gene mutations in Greek β-thalassemic patients and carriers by PCR-SSCP: Advantages and limitations of the method

Journal of Clinical Laboratory Analysis

Volumn 20, Issue 1, 2006, Pages 1-7

  Kakavas, Konstantinos V ^a,b   Noulas, Argiris ^b   Chalkias, Christos ^c   Hadjichristodoulou, Christos ^a   Georgiou, Ioannis ^d   Georgatsou, Elena ^a   Bonanou, Sophia ^a  

^a UNIVERSITY OF THESSALY   (Greece)

^b TECHNOLOGICAL EDUCATIONAL INSTITUTE OF LARISSA   (Greece)

^c GENERAL HOSPITAL   (Greece)

^d UNIVERSITY OF IOANNINA   (Greece)

Author keywords

thalassemia; DNA mutational analysis; Population characteristics; Single strand conformational polymorphism

Indexed keywords

BETA GLOBIN; SINGLE STRANDED DNA;

ARTICLE; BETA THALASSEMIA; CLINICAL ARTICLE; CONTROLLED STUDY; GENE IDENTIFICATION; GENE MUTATION; GREECE; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; SILVER STAINING; SINGLE STRAND CONFORMATION POLYMORPHISM;

BETA-THALASSEMIA; ELECTROPHORESIS, POLYACRYLAMIDE GEL; GENOTYPE; GLOBINS; HETEROZYGOTE; HUMANS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 33644774932     PISSN: 08878013     EISSN: 10982825     Source Type: Journal    
DOI: 10.1002/jcla.20091     Document Type: Article

References (22)

1. Weatherall DJ, Clegg JB, editors. The thalassemia syndromes. 3rd ed., Vol. 1. Blackwell Scientific Publications, Oxford; 1981. p. 221-319.
2. Kazazian HH Jr, Dowling CA, Boehm CD, et al. Gene defects in β-thalassemia and their prenatal diagnosis. Ann N Y Acad Sci 1990;612:1-5.
3. Olivieri NF. The β-thalassemias. N Engl J Med 1999;341:99-109.
4. Kattamis C, Cheng HH, Reese AL, et al. Molecular characterization of β-thalassaemia in 174 Greek patients with thalassaemia major. Br J Haematol 1990;74:342-346.
5. Loukopoulos D. Current status of thalassemia and sickle cell syndromes in Greece. Semin Hematol 1996;33:76-86.
6. Georgiou I, Makis A, Chaidos A, et al. Distribution and frequency of β-thalassemia mutations in northeastern and central Greece. Eur J Haematol 2003;70:75-78.
7. Saiki RK, Walch PS, Levenson CH, et al. Genetics analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci USA 1989;86:6230-6234.
8. Newton CR, Graham A, Heptinstal LE, et al. Analysis of many point mutations in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 1989;17:2503-2516.
9. Myers M, Maniatis T, Lerman L. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 1987;155:499-527.
10. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989;86:2766-2770.
11. Traeger-Synodinos J, Old JM, Petrou M, Galano R. Best practice guidelines for carrier identification and prenatal diagnosis of haemoglopinopathies. European Molecular Genetics Quality Network 2002 (http://www.emqn.org).
12. Foglieni B, Cremonesi L, Travi M, et al. β-Thalassemia microelectronic chip: a fast and accurate method for mutation detection. Clin Chem 2004;501:73-79.
13. Colosimo A, Guida V, De Lucia A, et al. Reliability of DHPLC in mutational screening of β-globin (HBB) alleles. Hum Mutat 2002;19:287-295.
14. Hayashi K, Yandell DW. How sensitive is PCR-SSCP? Hum Mutat 1993;2:338-346.
15. Hongyo T, Buzard GS, Calvert RJ, Weghorst CM. "Cold SSCP": a simple, rapid, and non-radioactive method for optimized single-strand conformation polymorphism analyses. Nucleic Acids Res 1993;21:3637-3642.
16. Jaeckel S, Epplen J, Kauth M, Miterski B, Epplen C. Polymerase chain reaction-single-strand conformation polymorphism or how to detect reliably and efficiently each sequence variation in many samples and many genes. Electrophoresis 1998;19: 3055-3061.
17. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
18. Sambrook J, Fritsch EF, Maniatis T, editors. Molecular cloning: a laboratory manual, commonly used electrophoresis buffers Table B12, B23. 2nd ed., Cold Spring Harbor Laboratory Press, USA; 1989.
19. Merril CR. Silver staining of proteins and DNA. Nature 1990; 343:779-780.
20. Old J, Varawalla N, Weatherall D. Rapid detection prenatal diagnosis of β-thalassaemia studies in Indian and Cypriot populations in the UK. Lancet 1990;33:834-837.
21. Teschauer W, Mussack T, Braun A, Waldner H, Fink E. Conditions for single strand conformation polymorphism (SSCP) analysis with broad applicability: a study of the effects of acrylamide, buffer and glycerol concentrations in SSCP analysis of exons of the p53 gene. Eur J Clin Chem Clin Biochem 1996; 34:125-131.
22. Ghanem N, Girodon E, Vidaud M, et al. A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms. Hum Mutat 1992;1:229-239.