A versatile denaturing HPLC approach for human β-globin gene mutation screening

American Journal of Hematology

Volumn 82, Issue 2, 2007, Pages 168-170

  Bournazos, Stavros N ^a   Tserga, Aggeliki ^a,d   Patrinos, George P ^b   Papadakis, Manoussos N ^c  

^a Locus Medicus Laboratory   (Greece)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c LAIKO GENERAL HOSPITAL   (Greece)

^d BIOMEDICAL SCIENCES RESEARCH CENTER ALEXANDER FLEMING   (Greece)

Author keywords

globin gene; DHPLC; Hellenic population; Hemoglobinopathies; Molecular diagnostics; Mutation screening; Thalassemia

Indexed keywords

BETA GLOBIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EARLY DIAGNOSIS; ENDEMIC DISEASE; GENE MUTATION; GENETIC SCREENING; HEMOGLOBINOPATHY; HUMAN; HUMAN CELL; HUMAN TISSUE; LABORATORY AUTOMATION; MALARIA; POPULATION RISK; PREVALENCE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY;

BETA-THALASSEMIA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; GLOBINS; GREECE; HUMANS; MALE; MUTATION; NUCLEIC ACID DENATURATION;

EID: 33846549441     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.20723     Document Type: Article

References (10)

1. Weatherall D, Clegg J. The Thalassemia Syndromes. 4th ed. Oxford: Blackwell Science; 2001.
2. Hardison RC, Chui DH, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002;19:225-233.
3. Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 2004;32:D537-D541.
4. Kollia P, Karababa PH, Sinopoulou K, et al. β-thalassaemia mutations and the underlying beta gene cluster haplotypes in the Greek population. Gene Geogr 1992;6:59-70.
5. Patrinos GP, van Baal S, Petersen MB, Papadakis MN. Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population. Hum Mutat 2005;25:327-333.
6. Patrinos GP, Kollia P, Papadakis MN. Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies. Hum Mutat 2005;26:399-412.
7. Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001;17:439-474.
8. Lacerra G, Fiorito M, Musollino G, et al. Sequence variations of the α-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE. Hum Mutat 2004;24:338-349.
9. Colosimo A, Guida V, De Luca A, et al. Reliability of DHPLC in mutational screening of β-globin (HBB) alleles. Hum Mutat 2002;19:287-295.
10. Losekoot M, Fodde R, Harteveid CL, van Heeren H, Giordano PC, Bernini LF. Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia. Br J Haematol 1990;76:269-274.