Detection of α-thalassemia-1 Southeast Asian and Thai type deletions and β-thalassemia 3.5-kb deletion by single-tube multiplex real-time PCR with SYBR green 1 and high-resolution melting analysis

Korean Journal of Laboratory Medicine

Volumn 31, Issue 3, 2011, Pages 138-142

  Pornprasert, Sakorn ^a   Wiengkum, Thanatcha ^a   Srithep, Sarinee ^a   Chainoi, Isarapong ^a   Singboottra, Panthong ^a   Wongwiwatthananukit, Sanchai ^b  

^a CHIANG MAI UNIVERSITY   (Thailand)

^b Lamphun Hospital   (Thailand)

Author keywords

thalassemia 1; thalassemia 3.5 kb deletion; High resolution melting analysis; Multiplex real time PCR; SYBR green1

Indexed keywords

ORGANIC COMPOUND; SYBR GREEN I;

ALPHA THALASSEMIA; ANALYTICAL EQUIPMENT; ARTICLE; ASIAN; BETA THALASSEMIA; CHEMISTRY; GENE DELETION; GENETICS; GENOTYPE; HUMAN; METHODOLOGY; PHASE TRANSITION; POLYMERASE CHAIN REACTION; SOUTHEAST ASIA; THAILAND; TRANSITION TEMPERATURE;

ALPHA-THALASSEMIA; ASIA, SOUTHEASTERN; ASIAN CONTINENTAL ANCESTRY GROUP; BETA-THALASSEMIA; GENE DELETION; GENOTYPE; HUMANS; ORGANIC CHEMICALS; PHASE TRANSITION; POLYMERASE CHAIN REACTION; REAGENT KITS, DIAGNOSTIC; THAILAND; TRANSITION TEMPERATURE;

EID: 79961076404     PISSN: 15986535     EISSN: None     Source Type: Journal    
DOI: 10.3343/kjlm.2011.31.3.138     Document Type: Article

References (34)

1. Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ. A review of the molecular genetics of the human alpha-globin gene cluster. Blood 1989; 73: 1081-104. (Pubitemid 19107407)
2. Kazazian HH Jr. The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol 1990; 27: 209-28.
3. Nicholls RD, Fischel-Ghodsian N, Higgs DR. Recombination at the human α-globin gene cluster: sequence features and topological constraints. Cell 1987; 49: 369-78.
4. Winichagoon P, Higgs DR, Goodbourn SE, Clegg JB, Weatherall DJ, Wasi P. The molecular basis of a-thalassaemia in Thailand. Embo J 1984; 3: 1813-8.
5. Eng B, Patterson M, Borys S, Chui DH, Waye JS. PCR-based diagnosis of the Filipino (-[FIL]) and Thai (-[THAI]) α-thalassemia-1 deletions. Am J Hematol 2000; 63: 54-6. (Pubitemid 30023023)
6. Fischel-Ghodsian N, Vickers MA, Seip M, Winichagoon P, Higgs DR. Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL). Br J Haematol 1988; 70: 233-8.
7. Fucharoen G, Fucharoen S, Wanhakit C, Srithong W. Molecular basis of alpha (0)-thalassemia in northeast of Thailand. Southeast Asian J Trop Med Public Health 1995; 26(S1): S249-51.
8. Craig JE, Kelly SJ, Barnetson R, Thein SL. Molecular characterization of a novel 10.3 kb deletion causing beta-thalassaemia with unusually high Hb A2. Br J Haematol 1992; 82: 735-44. (Pubitemid 23011981)
9. 0-thalassemia in members of a Thai family. Am J Hematol 1999; 61: 1-4. (Pubitemid 29218169)
10. Sanguansermsri T, Pape M, Laig M, Hundrieser J, Flatz G. Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene. Hemoglobin 1990; 14: 157-68. (Pubitemid 20256346)
11. Nopparatana C, Panich V, Saechan V, Sriroongrueng V, Nopparatana C, Rungjeadpha J, et al. The spectrum of beta-thalassemia mutations in southern Thailand. Southeast Asian J Trop Med Public Health 1995; 26: S229-34.
12. Prathomtanapong P, Pornprasert S, Phusua A, Suanta S, Saetung R, Sanguansermsri T. Detection and identification of β-thalassemia 3.5 kb deletion by SYBR Green1 and high resolution melting analysis. Eur J Haematol 2009; 82: 159-60.
13. Winichagoon P, Fucharoen S, Wilairat P, Fukumaki Y. Molecular mechanisms of thalassemia in southeast Asia. Southeast Asian J Trop Med Public Health 1995; 26(S1): 235-40.
14. Wanapirak C, Muninthorn W, Sanguansermsri T, Dhananjayanonda P, Tongsong T. Prevalence of thalassemia in pregnant women at Maharaj Nakorn Chiang Mai Hospital. J Med Assoc Thai 2004; 87: 1415-8. (Pubitemid 40239039)
15. Ko TM, Hsieh FJ, Hsu PM, Lee TY. Molecular characterization of severe alpha-thalassemias causing hydrops fetalis in Taiwan. Am J Med Genet 1991; 39: 317-20.
16. Liang ST, Wong VC, So WW, Ma HK, Chan V, Todd D. Homozygous alpha-thalassaemia: clinical presentation, diagnosis and management. A review of 46 cases. Br J Obstet Gynaecol 1985; 92: 680-4. (Pubitemid 15048746)
17. Thumasathit B, Nondasuta A, Silpisornkosol S, Lousuebsakul B, Unchalipongse P, Mangkornkanok M. Hydrops fetalis associated with Bart's hemoglobin in northern Thailand. J Pediatr 1968; 73: 132-8.
18. Fucharoen S, Ketvichit P, Pootrakul P, Siritanaratkul N, Piankijagum A, Wasi P. Clinical manifestation of beta-thalassemia/hemoglobin E disease. J Pediatr Hematol Oncol 2000; 22: 552-7.
19. Fucharoen S, Winichagoon P, Pootrakul P, Piankijagum A, Wasi P. Variable severity of Southeast Asian beta 0-thalassemia/Hb E disease. Birth Defects Orig Artie Ser 1987; 23: 241-8.
20. Winichagoon P, Fucharoen S, Chen P, Wasi P. Genetic factors affecting clinical severity in beta-thalassemia syndromes. J Pediatr Hematol Oncol 2000; 22: 573-80.
21. Pornprasert S, Phusua A, Suanta S, Saetung R, Sanguansermsri T. Detection of alpha-thalassemia-1 Southeast Asian type using realtime gap-PCR with SYBR Green1 and high resolution melting analysis. Eur J Haematol 2008; 80: 510-4. (Pubitemid 351695233)
22. Pornprasert S and Sukunthamala K. SYT09 and SYBR GREEN1 with a high resolution melting analysis for prenatal diagnosis of β°-thalassemia/ hemoglobin-E. Eur J Haematol 2010; 85: 424-9.
23. Munkongdee T, Vattanaviboon P, Thummarati P, Sewamart P, Winichagoon P, Fucharoen S, et al. Rapid diagnosis of alpha-thai-assemia by melting curve analysis. J Mol Diagn 2010; 12: 354-8.
24. Chanprapaph P, Tongsong T, Wanapirak C, Sirichotiyakul S, Sanguansermsri T. Prenatal diagnosis of alpha-thalassemia-1 (SEA type) by chorionic villus sampling. J Med Assoc Thai 2002; 85: 1049-53. (Pubitemid 36134960)
25. Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for a-thalassemia. Blood 2001; 98: 250-1.
26. Fucharoen S and Winichagoon P. Thalassemia in SouthEast Asia: problems and strategy for prevention and control. Southeast Asian J Trop Med Public Health 1992; 23: 647-55. (Pubitemid 23121536)
27. Fucharoen S, Winichagoon P, Thonglairoam V, Siriboon W, Siritanaratkul N, Kanokpongsakdi S, et al. Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies. Southeast Asian J Trop Med Public Health 1991; 22: 16-29.
28. Chamras U, Sukunthamala K, Pornprasert S. SYT09 and SYBR GREEN1 with high resolution melting analysis for molecular confirmatory testing of the common Southeast Asian β°-thalassemia mutations. Hemoglobin 2009; 33: 539-45.
29. Yamsri S, Sanchaisuriya K, Fucharoen G, Sae-Ung N, Ratanasiri T, Fucharoen S. Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single university center. Prenat Diagn 2010; 30: 540-6.
30. 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: 318-20.
31. Monis PT, Giglio S, Saint CP. Comparison of SYT09 and SYBR Green I for real-time polymerase chain reaction and investigation of the effect of dye concentration on amplification and DNA melting curve analysis. Anal Biochem 2005; 340: 24-34. (Pubitemid 40404098)
32. Giglio S, Monis PT, Saint CP. Demonstration of preferential binding of SYBR Green I to specific DNA fragments in real-time multiplex PCR. Nucleic Acids Res 2003; 31: e136.
33. Herrmann MG, Durtschi JD, Bromley LK, Wittwer CT, Voelkerding KV. Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes. Clin Chem 2006; 52: 494-503.
34. Krypuy M, Newnham GM, Thomas DM, Conron M, Dobrovic A. High resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples: KRAS codon 12 and 13 mutations in non-small cell lung cancer. BMC Cancer 2006; 6: 295.