Development of a quantitative real-time PCR assay for detection of unknown Α-globin gene deletions

Blood Cells, Molecules, and Diseases

Volumn 45, Issue 1, 2010, Pages 58-64

  Fallah, Mohammad Sadegh ^a,c   Mahdian, Reza ^b   Aleyasin, Seyyed Ahmad ^a   Jamali, Somayeh ^b   Hayat Nosaeid, Mina ^b   Karimipour, Moretza ^b   Raeisi, Marzieh ^c   Zeinali, Sirous ^b,c  

^a NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^b PASTEUR INSTITUTE OF IRAN   (Iran)

^c Kawsar Human Genetics Research Center   (Iran)

Author keywords

Thalassemia; Iran; Mutation; Real time PCR

Indexed keywords

ALPHA GLOBIN; HEMOGLOBIN A2;

ALPHA THALASSEMIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE CLUSTER; GENE DELETION; GENE DOSAGE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; POINT MUTATION; PRIORITY JOURNAL; PROCESS OPTIMIZATION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RELIABILITY; SENSITIVITY AND SPECIFICITY; VALIDATION PROCESS;

ALPHA-GLOBINS; ALPHA-THALASSEMIA; FEMALE; GENE DELETION; HUMANS; IRAN; MALE; MULTIGENE FAMILY; POLYMERASE CHAIN REACTION;

EID: 77953130207     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.03.001     Document Type: Article

References (33)

1. Weatherhall D.J., Clegg J.B. The thalassaemia syndromes 2001, Blackwell Science, Milan, Italy. 4th ed.
2. Samavat A., Modell B. Iranian national thalassaemia screening programme. BMJ 2004, 329(7475):1134-1137.
3. Comprehensive guideline for Iranian National Thalassemia Prevention Program 2004, Ministry of Health, CDC.
4. Najmabadi H., Ghamari A., Sahebjam F., et al. Fourteen-year experience of prenatal diagnosis of thalassemia in Iran. Community Genet. 2006, 9(2):93-97.
5. Elton P. Learning from low income countries: thalassaemia screening in Iran provides evidence for programme in Lancashire. BMJ 2005, 330(7489):478. discussion 479.
6. Christianson A., Streetly A., Darr A. Lessons from thalassaemia screening in Iran. BMJ 2004, 329(7475):1115-1117.
7. Sangkitporn S.K., Wangkahat K., Sangnoi A., et al. Rapid diagnosis of alpha(o)-thalassemia using the relative quantitative PCR and the dissociation curve analysis. Clin. Lab. Haematol. 2003, 25(6):359-365.
8. Harteveld C.L., Yavarian M., Zorai A., et al. Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects. Am. J. Hematol. 2003, 74(2):99-103.
9. Hadavi V., Taromchi A., Malekpour M., et al. Elucidating the spectrum of alpha-thalassemia mutations in Iran. Haematologica 2007, 92(7):992-993.
10. Pornprasert S., Phusua A., Suanta S., et al. Detection of alpha-thalassemia-1 Southeast Asian type using real-time gap-PCR with SYBR Green1 and high resolution melting analysis. Eur. J. Haematol. 2008, 80(6):510-514.
11. Neishabury M., Oberkanins C., Moheb L.A., et al. High prevalence of the -alpha3.7 deletion among thalassemia patients in Iran. Hemoglobin 2003, 27(1):53-55.
12. Neishabury M., Abbasi-Moheb L., Poorfathollah A.-A., et al. Alpha-thalassemia: deletion analysis in Iran. Arch. Iran. Med. 2001, 4(4):160-164.
13. Chong S.S., Boehm C.D., Higgs D.R., Cutting G.R. Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood 2000, 95(1):360-362.
14. Tan A.S.C., Quah T.C., Low P.S., Chong S.S. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. Blood 2001, 98(1):250-251.
15. Garshasbi M., Oberkanins C., Law H.Y., et al. Alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia. Haematologica 2003, 88(10):1196-1197.
16. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl. Acids Res. 1988, 16(3):1215
17. Chong S.S., Boehm C.D., Cutting G.R., Higgs D.R. Simplified multiplex-PCR diagnosis of common Southeast Asian deletional determinants of {alpha}-thalassemia. Clin. Chem. 2000, 46(10):1692-1695.
18. Liu Y.T., Old J.M., Miles K., et al. Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. Br. J. Haematol. 2000, 108(2):295-299.
19. Old J.M., Varawalla N.Y., Weatherall D.J. Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet 1990, 336(8719):834-837.
20. Sanger F., Nicklen S., Coulson A.R. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. U.S.A. 1977, 74(12):5463-5467.
21. Jamali S., Mahdian R., Nosaeid M.H., et al. Detection of unknown deletions in Alpha globin genes in alpha thalassemia carriers using Real-time PCR. Modarres Med. Sci. J. (Persian Language) 2009, 11(3-4):31-39.
22. Real-time PCR systems. Applied Biosystems 7900HT Fast Real-Time PCR System and 7300/7500 Real-Time PCR Systems. Chemistry Guide 2004, Applied Biosystems.
23. Yuan J.S., Reed A., Chen F., Stewart C.N. Statistical analysis of real-time PCR data. BMC Bioinform. 2006, 7:85.
24. Fallah M.S., Zadeh-Vakili A., Aleyasin S.A., et al. Molecular characterization of thalassemia intermedia, due to co-inheritance of homozygous alpha triplication and IVSI-5 beta-thalassemia. Blood Cells Mol. Dis. 2009, 43(2):158-160.
25. Liu J., Yan M., Wang Z., et al. Molecular diagnosis of alpha-thalassemia by combining real-time PCR with SYBR Green1 and dissociation curve analysis. Transl. Res. 2006, 148(1):6-12.
26. Winichagoon P., Fucharoen S., Kanokpongsakdi S., Fukumaki Y. Detection of alpha-thalassemia-1 (Southeast Asian type) and its application for prenatal diagnosis. Clin. Genet. 1995, 47(6):318-320.
27. Siriratmanawong N., Fucharoen G., Sanchaisuriya K., et al. Simultaneous PCR detection of beta-thalassemia and alpha-thalassemia 1 (SEA type) in prenatal diagnosis of complex thalassemia syndrome. Clin. Biochem. 2001, 34(5):377-380.
28. Hayat Nosaeid M., Mahdian R., Jamali S., et al. Validation and comparison of two quantitative real-time PCR assays for direct detection of DMD/BMD carriers. Clin. Biochem. 2009, 42(12):1291-1299.
29. Joncourt F., Neuhaus B., Jostarndt-Foegen K., et al. Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR. Hum. Mutat. 2004, 23(4):385-391.
30. Traverso M., Malnati M., Minetti C., et al. Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. Biochem. Biophys. Res. Commun. 2006, 339(1):145-150.
31. Babashah S., Jamali S., Mahdian R., et al. Detection of unknown deletions in beta-globin gene cluster using relative quantitative PCR methods. Eur. J. Haematol. 2009, 83(3):261-269.
32. Vrettou C., Traeger-Synodinos J., Tzetis M., et al. Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes. Clin. Chem. 2003, 49(5):769-776.
33. Schneider M., Joncourt F., Sanz J., et al. Detection of exon deletions within an entire gene (CFTR) by relative quantification on the LightCycler. Clin. Chem. 2006, 52(11):2005-2012.