Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing α-thalassemias

Clinical Chemistry

Volumn 50, Issue 7, 2004, Pages 1242-1245

  Guida, Valentina ^a,b   Colosimo, Alessia ^a,c   Fiorito, Mirella ^a,b   Foglietta, Enrica ^d   Bianco, Ida ^d   Ivaldi, Giovanni ^e   Fichera, Marco ^f   Dallapiccola, Bruno ^a,b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY OF CHIETI   (Italy)

^d Ctro Microcitemia Assoc Naz M   (Italy)

^e GALLIERA HOSPITAL   (Italy)

^f OASI RESEARCH INSTITUTE IRCCS   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ALPHA THALASSEMIA; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA ISOLATION; DOT HYBRIDIZATION; ELUTION; GENE DELETION; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC PROCEDURES; GENETIC SCREENING; HUMAN; HUMAN CELL; MELTING POINT; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE;

ALPHA-THALASSEMIA; AUTOANALYSIS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; GLOBINS; HUMANS; MUTATION; POINT MUTATION; SEQUENCE DELETION;

EID: 3042569513     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2004.032664     Document Type: Article

References (14)

1. Higgs DR. α-Thalassemia. In: Higgs DR, Weatherall DJ, eds. Baillieres clinical haematology. The haemoglobinopathies. London: Bailliere's Tindal, 1993:117-50.
2. Old JM. Screening and genetic diagnosis of haemoglobin disorders. Blood Rev 2003;7:43-53.
3. Oron-Karni V, Filon D, Shifrin Y, Fried E, Pogrebijsky G, Oppenheim A, et al. Diversity of α-globin mutations and clinical presentation of α-thalassemia in Israel. Am J Hematol 2000;65:196-203.
4. Laboratories of Computer Science & Engineering and Biochemistry & Molecular Biology at the Pennsylvania State University. Globin gene server. http://globin.cse.psu.edu (accessed March 24, 2004).
5. Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF. Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA. Hum Mutat 1996;7:114-22.
6. Jorge SB, Melo MB, Costa FF, Sonati MF. Screening for mutations in human α-globin genes by nonradioactive single-strand conformation polymorphism. Braz J Med Biol Res 2003;36:1471-4.
7. Foglietta E, Deidda G, Graziani B, Modiano G, Bianco I. Detection of α-globin gene disorders by a simple PCR methodology [Erratum published in: Haematologica 1996;81:XVI). Haematologica 1996;81:387-96.
8. Foglietta E, Bianco I, Maggio A, Giambona A. Rapid detection of six common Mediterranean and three non-Mediterranean α-thalassemia point mutations by reverse dot blot analysis. Am J Hematol 2003;74:191-5.
9. Xiao W, Oefner P. Denaturing high performance liquid chromatography: a review. Hum Mutat 2001;17:439-74.
10. Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, et al. Reliability of DHPLC in mutational screening of β-globin (HBB) alleles. Hum Mutat 2002;19:287-95.
11. Miller SA, Dykes DD, Polesky HF. A single salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
12. Kuklin A, Davis AP, Hecker KH, Gjerde DT, Taylor PD. A novel technique for rapid automated genotyping of DNA polymorphisms in the mouse. Mol Cell Probes 1999;13:239-42.
13. Escary JL, Cecillon M, Maciazek J, Lathrop M, Tournier-Lasserve E, Joutel A. Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. Hum Mutat 2000;16:518-26.
14. Law HY, Chee MK, Tan GP, Ng IS. The simultaneous presence of α- and β-thalassaemia alleles: a pitfall of thalassaemia screening. Community Genet 2003;6:14-21.