Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism

Brazilian Journal of Medical and Biological Research

Volumn 36, Issue 11, 2003, Pages 1471-1474

  Jorge, S B ^a   Melo, M B ^a   Costa, F F ^a   Sonati, M F ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Alpha globin genes; Alpha globin structural variants; Hemoglobinopathies; Mutation screening; Nonradioactive SSCP

Indexed keywords

ALPHA GLOBIN; POLYACRYLAMIDE GEL; RADIOACTIVE MATERIAL; RESTRICTION ENDONUCLEASE; SILVER;

ALPHA THALASSEMIA; ARTICLE; AUTOMATION; CONCENTRATION (PARAMETERS); GEL ELECTROPHORESIS; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC SCREENING; HUMAN; PATHOGENESIS; POLYMERASE CHAIN REACTION; RELIABILITY; RESTRICTION MAPPING; SENSITIVITY AND SPECIFICITY; SILVER STAINING; SINGLE STRAND CONFORMATION POLYMORPHISM; TEMPERATURE;

EID: 0242490908     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2003001100004     Document Type: Article

References (13)

1. Zago MA & Costa FF (1985). Hereditary haemoglobin disorders in Brazil. Transactions of the Royal Society of Tropical Medicine and Hygiene, 79: 385-388.
2. Costa FF, Figueredo MS, Sonati MF, Kimura EM & Martins CS (1992). The IVS-I-110 (G→T) and codon 39 (C→T) beta-thalassemia mutations in association with alpha-thal-2 (-alpha3.7 kb) and Hb Hasharon [alpha 47(CE5)Asp→His] in a Brazilian patient. Hemoglobin, 16: 525-528.
3. Sonati MF, Kimura EM, Grotto HZ, Gervásio SA & Costa FF (1996). Hereditary hemoglobinopathies in a population from southeast Brazil. Hemoglobin, 20: 175-179.
4. Wenning MR, Kimura EM, Costa FF, Saad ST, Gervósio S, de Jorge SB, Borges E, Silva NM & Sonati MF (2000). α-Globin genes: thalassemic and structural alterations in a Brazilian population. Brazilian Journal of Medical and Biological Research, 33: 1041-1045.
5. 2-globin variant (12 bp deletion) with mild thalassaemic phenotype. British Journal of Haematology 94: 639-644.
6. Orita M, Iwahana H, Kanazawa H, Hayashi K & Sekiya T (1989). Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proceedings of the National Academy of Sciences, USA, 86: 2766-2770.
7. Harteveld CL, Heister AJ, Giordano PC, Losekoot M & Bernini LF (1996). Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA. Human Mutation, 7: 114-122.
8. Myers RM, Maniatis T & Lerman LS (1987). Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods in Enzymology, 155: 501-527.
9. Hall GW, Thein SL, Newland AC, Chisholm M, Traeger-Synodinos J, Kanavakis E, Katamis C & Higgs DR (1993). A base substitution (T→C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia. British Journal of Haematology, 85: 546-552.
10. Gibson J, Glass T & Einhom P (1997). Analysis of frequently mutated regions of BRCA 1 by SSCP using PhastGel® analysis and silver staining. Science Tools from Pharmacia Biotech, 2: 16-17.
11. 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.
12. Maruya E, Saii H & Yokoyama S (1996). PCR-LIS-SSCP (low ionic strength single-strand conformation polymorphism) - A simple method for high-resolution allele typing of HLA-DRB1, -DPB1. Genome Research, 6: 51-57.
13. Hayashi K & Yandell DW (1993). How sensitive is PCR-SSCP? Human Mutation, 2: 338-346.