Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA

Human Mutation

Volumn 7, Issue 2, 1996, Pages 114-122

  Harteveld, Kees L ^a   Heister, Angelien J G A M ^a   Giordano, Piero C ^a   Losekoot, Monique ^a   Bernini, Luigi F ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

Author keywords

Globin gene; Thalassemia; Denaturing gradient gel electrophoresis; Mutational analysis; Single strand conformational polymorphic analysis

Indexed keywords

ALPHA GLOBIN;

ALPHA THALASSEMIA; ARTICLE; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA POLYMORPHISM; GENE AMPLIFICATION; HUMAN; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALPHA-THALASSEMIA; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, RECOMBINANT; ELECTROPHORESIS, POLYACRYLAMIDE GEL; GENETIC SCREENING; GLOBINS; HETEROZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; NUCLEIC ACID DENATURATION; NUCLEIC ACID HYBRIDIZATION; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TEMPERATURE;

EID: 0029870551     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:2<114::AID-HUMU5>3.0.CO;2-C     Document Type: Article

References (18)

1. Bakker E, Deutz-Terlouw PP, Slegtenhorst KE, Poort SR, Reitsma PH, Smoor MA, v.Ommen GJB (1992) Acceleration and sensitivity enhancement of SSCP detection in the F9-gene by the use of Phastsystem™ [abstract]. Am J Hum Genet 51:1484.
2. Baysal E, Huisman THJ (1994) Detection of common deletional α-thalassemia-2 determinants by PCR. Am J Hematol 46:208-213.
3. Bowden DK, Vickers MA, Higgs DR (1992) A PCR-based strategy to detect the common and severe determinants of α-thalassemia. Br J Haematol 81:104-108.
4. Dacie JV, Lewis SM (1991) Practical Haematology. 7th ed. Edinburgh: Churchill Livingstone.
5. Dodé C, Rochette J, Krishnamoorthy R (1990) Locus assignment of human α-globin mutations by selective amplification and direct sequencing. Br J Haematol 76:275-281.
6. Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D (1980) Two different molecular organizations account for the single α-globin gene of the α-thalassemia-2 genotype. J Clin Invest 66:1319-1325.
7. Fodde R, Losekoot M (1994) Mutation detection by denaturing gradient gel electrophoresis (DGGE). Hum Mut 3:83-94.
8. Giordano PC, Fodde R, Losekoot M, Bernini LF (1989) Design of a programmable automatic apparatus for the DNA polymerase chain reaction. Technique 1:16-20.
9. Giordano PC, Harteveld CL, Streng H, Oosterwijk JC, Heister JGAM, Amons R, Bernini LF (1994) Hb Kurdistan [α47(CE5)Asps≥Tyr], a new a chain variant in combination with β°-thalassemia. Hemoglobin 18:11-18.
10. Goossens M, Fanem P, Attree O, Vidaud M (1991) A new strategy for direct detection of beta-thalassemia mutations. Experience of the Creteil Center. Ann NY Acad Sci 612:74-80.
11. 2globin gene causing α-thalassemia. Br J Haematol 87:139-143.
12. Hayashi K, Yandell DW (1993) How sensitive is PCR-SSCP? Hum Mut 2:338-346.
13. Higgs DR, Weatherall DJ (1983) Alpha thalassemia. Curr Top Hematol 4:37-97.
14. Higgs DR (1993) Alpha-thalassemia. In Higgs DR, Weatherall DJ (eds): Bailliere's Clinical Haematology, "The Haemoglobinopathies." London: Baillière Tindall, pp 117-150.
15. Pressley L, Higgs DR, Clegg JB, Weatherall DJ (1980). Gene deletions in α-thalassaemia prove that the 5'zeta locus is functional. Proc Natl Acad Sci USA 77:3586-3589.
16. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 74: 5463-5467.
17. Sheffield VC, Cox DR, Lerman LS, Myers RM (1989) Attachment of a 40 base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragment by the polymerase chain reaction results in improved detection of single base changes. Proc Natl Acad Sci USA 86:232-236.
18. Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM (1993) The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16:325-332.