Molecular spectrum of β-thalassemia in the Mexican population

Blood Cells, Molecules, and Diseases

Volumn 33, Issue 2, 2004, Pages 150-152

  Perea, F Javier ^a   Magaña, María Teresa ^a   Cobián, José G ^a   Sánchez López, J Yoaly ^a   Chávez, María L ^a   Zamudio, Guadalupe ^a   Esparza, María A ^b   López Guido, Beatriz ^b   Ibarra, Bertha ^a  

^a UNIVERSITY OF GUADALAJARA   (Mexico)

^b HOSPITAL DE PEDIATRÍA   (Mexico)

Author keywords

Thalassemia; Hemoglobinopathies; Mexico

Indexed keywords

ALLELE; ARTICLE; BETA THALASSEMIA; CHROMOSOME; CONTROLLED STUDY; DNA SEQUENCE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MEXICO; PRIORITY JOURNAL;

BETA-THALASSEMIA; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MEXICO; PROTEIN BIOSYNTHESIS;

EID: 4143071375     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2004.06.001     Document Type: Article

References (20)

1. Weatherall D.J., Clegg J.B., Higgs D.R., et al. The hemoglobinopathies. Scriver Ch.R., Beaudet A.L., Sly W.S., et al. The Metabolic and Molecular Bases of Inherited Disease. Eight ed.:2001;4571-4636 McGraw-Hill, New York
2. Flint J., Harding R.M., Boyce A.J., Clegg J.B. The population genetics of the haemoglobinopathies. Rodgers C.P.:1998;1-51 Baillieres Clinical Haematology, Oxford
3. Zahed L., Demont J., Bouhass R., et al. Origin and history of the IVS-I-110 and codon 39 beta-thalassemia mutations in the Lebanese population. Hum. Biol. 74:2002;837-847
4. Ibarra B., Vaca G., Franco-Gamboa E., et al. Abnormal hemoglobins in Northwestern Mexico. Acta Anthropogenet. 6:1982;217-223
5. Ruiz-Reyes G. Hemoglobinas anormales y talasemias en la República Mexicana. Rev. Invest. Clin. 50:1998;163-170
6. Ibarra B., Perea F.J., Villalobos-Arámbula A.R. Alelos talasémicos en pacientes mestizos Mexicanos. Rev. Invest. Clin. 47:1995;127-131
7. A globin gene haplotypes in Mexican mestizos. Hum. Genet. 99:1997;498-500
8. Huisman T.H.J., Jonxis J.H.P. The Hemoglobinopathies: Techniques of Identification, Clinical and Biochemical Analysis. 1977;Marcel Dekker Inc., New York
9. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cell. Nucleic Acids Res. 16:1988;1215-1216
10. Old J.M., Varawalla N.Y., Weatherall D.J. Rapid detection and prenatal diagnosis of β-thalassemia: studies in Indian and Cypriot population in the UK. Lancet. 336:1990;834-837
11. Vives-Corrons J.L., Pujades M.A., Miguel-García A., et al. Rapid detection of (δβ)°-thalassemia deletion by polymerase chain reaction. Blood. 80:1992;1582-1585
12. Perea F.J., Magaña M.T., Esparza M.A., Ibarra B. A frameshift at codons 77/78 (-C): a novel β-thalassemia mutation. Hemoglobin. 28:2004
13. Globin Gene Server. Pennsylvania State University. http://www.globin.cse. psu.edu/.
14. Kulozik A.E., Bellan-Koch A., Bail S., et al. Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element. Blood. 77:1991;2054-2058
15. Poncz M., Ballantine M., Solowiejczyk D., et al. Beta-thalassemia in a Kurdish Jew. Single base changes in the TATA box. J. Biol. Chem. 257:1982;5994-5996
16. Hattori Y., Yamashiro Y., Ohba Y., et al. A new beta-thalassemia mutation (initiation codon ATG - GTG) found in the Japanese population. Hemoglobin. 15:1991;317-325
17. Economou E.P., Antonorakis S.E., Dowling C.C., et al. Molecular heterogeneity of β thalassemia in mestizo Mexicans. Genomics. 11:1991;474
18. Villegas A., Martín G., González F.A., et al. Frameshift CD 11 (-T) beta-thalassemia mutation. Am. J. Hematol. 54:1997;265-266
19. Baiget M., Gimferrer E., Fernandez I., et al. Spanish delta-beta-thalassemia: hematological studies and composition of the gamma-chains in ten homozygous patients. Acta Haematol. 70:1983;341-344
20. Villegas A., Ropero P., González F.A., et al. The thalassemia syndromes: molecular characterization in the Spanish population. Hemoglobin. 25:2001;273-283