A review of the molecular diagnosis of thalassemia

Hematology

Volumn 7, Issue 4, 2002, Pages 203-209

  Gu, Xiaofeng ^a   Zeng, Yitao ^b  

^a FUDAN UNIVERSITY   (China)

^b Shanghai Institute of Medical Genetics   (China)

Author keywords

DNA mutations; PCR ASO analysis; Pre natal diagnosis; Thalassaemias

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; DNA;

ALPHA THALASSEMIA; AMPLIFICATION REFRACTORY MUTATION SYSTEM; BETA THALASSEMIA; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DISEASE CONTROL; DISEASE SEVERITY; DNA MICROARRAY; FEMALE; FETUS; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HUMAN; MULTIPLES ALLELE SPECIFIC POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RESTRICTION MAPPING; REVERSE DOT BLOT METHOD; REVIEW; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; THALASSEMIA;

EID: 0036439058     PISSN: 10245332     EISSN: None     Source Type: Journal    
DOI: 10.1080/1024533021000024102     Document Type: Review

References (24)

1. Weatherall, D.J. and Clegg, J.B. (1996) "Thalassemia-a global public health problem", Nat. Med. 2, 847-849.
2. Weatherall, D.J. (1998) "Thalassemia in the next millenuium. Keynote Address", Ann. NY Acad. Sci. 850, 1-9.
3. Cao, A., Rosatelli, M.C., Monni, G. and Galanello, R. (2002) "Screening for thalassemia: a model of success", Obstet. Gynecol. Clin. N. Am. 29, 305-328.
4. Waye, J.S., Eng, B., Patterson, M., Walker, L., Carcao, M.D., Olivieri, N.F. and Chui, D.H. (2001) "Hemoglobin H (Hb H) disease in Canada: molecular diagnosis and review of 116 cases", Am. J. Hematol. 68, 11-15.
5. Rigoli, L., Meo, A., Miceli, M.R., Alessio, K., Caruso, R.A., La Rosa, M.A., Salpietro, D.C., Ricca, M. and Barberi, I. (2001) "Molecular analysis of β-thalassaemia patients in a high incidence area of southern Italy", Clin. Lab. Haematol. 23, 373-378.
6. Villegas, A., Ropero, P., Gonzalez, F.A., Anguita, E. and Espinos, D. (2001) "The thalassemia syndromes: molecular characterization in the Spanish population", Hemoglobin 25, 273-283.
7. Chen, F.E., Ooi, C., Ha, S.Y., Cheung, B.M.Y., Todd, D., Liang, R., Chan, T.K. and Chan, V. (2000) "Genetic and clinical features of hemoglobin H diseases in Chinese patients", N. Engl. J. Med. 343, 544-550.
8. Zeng, Y.T., Huang, S.Z. and Chen, M.J. (1988) "The types of distribution of α-thalassemia-2 in China", Hemoglobin 12, 455-458.
9. Yan, Z., Wu, G. and Wang, R. (1994) "Subtypes of non-deletion mutations in Chinese HbH patients", Chin. J. Hematol. 15, 393-395.
10. Chu, D.C., Lee, C.H., Lo, M.D., Cheng, S.W., Chen, D.P., Wu, T.L., Tsao, K.C., Chiu, D.T. and Sun, C.F. (2000) "Non-radioactive Southern hybridization for early diagnosis of α-thalassemia with southeast Asian-type deletion in Taiwan", Am. J. Med. Gent. 95, 325-332.
11. Liu, J., Zhu, J. and Wang, L. (2001) "Study on new techniques for genetic diagnosis of deletional (α-thalassemia", Chin. J. Hematol. 22, 193-196.
12. Saiki, R.K., Bugawan, T.L., Horn, G.T., Mullis, K.B. and Erlich, H.A. (1986) "Analysis of enzymatically amplified β globin and HLA-DQ α DNA with allele-specific oligoneucleotide probes", Nature 324, 163-166.
13. Olivieri, N.F. (1999) "The β-thalassemias", N. Engl. J. Med. 341, 99-109.
14. Wehtherall, D.J. (2001) "Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias", Nat. Rev. Genet. 2, 245-255.
15. Globin Gene Disorder Working Party of the BCSH General Haematology Task Force (1994) "Guidelines for the fetal diagnosis of globin gene disorders", J. Clin. Pathol. 47, 199-204.
16. Saiki, R.K., Walsh, P.S., Levenson, C.H. and Erlich, H.A. (1989) "Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes", Proc. Natl Acad. Sci. USA 86, 6230-6234.
17. Tan, K.L., Tan, J.A., Wong, Y.C., Wee, Y.C., Thong, M.K. and Yap, S.F. (2001) "Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of β-thalassemia in Malaysia", Genet. Test 5, 17-22.
18. Mao, Y.H., Sheng, M., Chen, M.J., Ren, Z.R. and Zeng, Y.T. (1996) "Prenatal diagnosis of β thalassemia using multiplex allele-specific amplification (MAS-PCR) in Chinese families", Hematology 1, 253-257.
19. Piyamongkol, W., Harper, J.C., Delhanty, J.D. and Wells, D. (2001) "Preimplantation genetic diagnostic protocols for α- and β-thalassaemias using multiplex fluorescent PCR", Prenatal Diagn. 21, 753-759.
20. Weatherall, D.J. (2001) "The Thalassemia", In: Stamatoyannopoulos, G., Majerus, P.W., Perimutter, R.M. and Varmus, H., eds, The Molecular Basis of Blood Disease (Harcourt, Singapore), pp. 183-226.
21. Gibbons, R.J. and Higgs, D.R. (2000) "Molecular-clinical spectrum of the ATR-X syndrome", Am. J. Med. Genet. 97, 204-212.
22. Vrettou, C., Palmer, G., Kanavakis, E., Tzetis, M., Antoniadi, T., Mastrominas, M. and Traeger-Synodinos, J. (1999) "A widely applicable strategy for single cell genotyping of β-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis", Prenatal Diagn. 19, 1209-1216.
23. Ganshirt, D., Smeets, F.W., Dohr, A., Walde, C., Steen, I., Lapucci, C., Falcinelli, C. and Sant, R. (1998) "Enrichment of fetal nucleated red blood cells from the maternal circulation for prenatal diagnosis: experiences with triple density gradient and MACS based on more than 600 cases", Fetal Diagn. Ther. 13, 276-286.
24. Dubiley, S., Kirillov, E. and Mirzabekov, A. (1999) "Polymorphism analysis and gene detection by minisequencing on an array of gel-immobilized primers", Nucleic Acids Res. 27, e19, (http://www.nar.oupjournal.org/cgi/content/full/27/18/e19).