Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays

Clinica Chimica Acta

Volumn 412, Issue 13-14, 2011, Pages 1257-1261

  Joly, Philippe ^a,b   Lacan, Philippe ^a   Garcia, Caroline ^a   Delasaux, Angelique ^a   Francina, Alain ^a  

^a EDOUARD HERRIOT HOSPITAL   (France)

^b UNIVERSITÉ LYON 1   (France)

Author keywords

globin haplotype; FRET; HRM; Sickle cell disease

Indexed keywords

BETA GLOBIN;

ARTICLE; ASSAY; FALSE NEGATIVE RESULT; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE CLUSTER; HAPLOTYPE; HIGH RESOLUTION MELTING ASSAY; HUMAN; MAJOR CLINICAL STUDY; METHODOLOGY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RELIABILITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SICKLE CELL ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ANEMIA, SICKLE CELL; BASE SEQUENCE; BETA-GLOBINS; COHORT STUDIES; FLUORESCENCE RESONANCE ENERGY TRANSFER; HAPLOTYPES; LIGHT; MULTIGENE FAMILY; NUCLEIC ACID DENATURATION; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; TIME FACTORS; TRANSITION TEMPERATURE;

EID: 79955435811     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2011.03.025     Document Type: Article

References (14)

1. Rees D.C., Williams T.N., Gladwin M.T. Sickle-cell disease. Lancet 2010, 376:2018-2031.
2. Nagel R.L., Steinberg M.H. Genetic modulation of sickle cell disease and thalassemia. Disorders of hemoglobin: genetics, pathophysiology, and clinical management 2009, 638-657. Cambridge University Press, Cambridge, UK. Second Edition. M.H. Steinberg, B.G. Forget, D.R. Higgs, D.J. Weatherall (Eds.).
3. Nagel R.L., Steinberg M.H. Genetics of the βS gene: origins, genetic epidemiology, and epistgasis in sickle cell anemia. Disorders of hemoglobin: genetics, pathophysiology, and clinical management 2001, 711-755. Cambridge University Press, Cambridge, UK. first edition. M.H. Steinberg, B.G. Forget, D.R. Higgs, R.L. Nagel (Eds.).
4. Antonarkis S.E., Boehm C.D., Diardina P.J.V., Kazazian H.H.J. Non-random association of polymorphic restriction sites in the β-globin gene cluster. Proc Natl Acad Sci USA 1982, 79:137-141.
5. Sutton M., Bouhassira E.E., Nagel R.L. Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes. Am J Hematol 1989, 32:66-69.
6. Fabry M., Old J.M. Laboratory methods for diagnosis and evaluation of haemoglobin disorders. Disorders of hemoglobin: genetics, pathophysiology, and clinical management 2009, 658-688. Cambridge University Press, Cambridge, UK. second edition. M.H. Steinberg, B.G. Forget, D.R. Higgs, D.J. Weatherall (Eds.).
7. Vossen R.H., Aten E., Roos A., den Dunnen J.T. High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat 2009, 30:860-866.
8. Liew M., Pryor R., Palais R., Meadows C., Erali M., Lyon E., et al. Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. Clin Chem 2004, 50:1156-1164.
9. Takatsu K., Yokomatu T., Kurata S., Kanagawa T. A new approach to SNP genotyping with fluorescently labelled mononucleotides. Nucleic Acids Res 2004, 32:e60.
10. Costa C., Pissard S., Girodon E., Huot D., Goossens M. A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination. Mol Diagn 2003, 7:45-48.
11. Borg J., Georgitsi M., Aleporou-Marinou V., Kollia P., Patrinos G.P. Genetic recombination as a major cause of mutagenesis in the human globin gene clusters. Clin Biochem 2009, 42:1839-1850.
12. Zago M.A., Silva W.A., Dalle B., et al. Atypical beta(S) haplotypes are generated by diverse genetic mechanisms. Am J Hematol 2000, 63:79-84.
13. Liu L., Muralidhar S., Singh M., et al. High-density SNP genotyping to define beta-globin locus haplotypes. Blood Cells Mol Dis 2009, 42:16-24.
14. Ma Q., Abel K., Sripichai O., et al. β-Globin gene cluster polymorphisms are strongly associated with severity of Hb E/β0-thalassemia. Clin Genet 2007, 72:497-505.