Mutation analysis of the HBB gene in selected bangladeshi β-thalassemic individuals: Presence of rare mutations

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 3, 2010, Pages 299-302

  Ayub, Mustak Ibn ^a   Moosa, Mahdi Muhammad ^a   Sarwardi, Golam ^b   Khan, Waqar ^b   Khan, Haseena ^a   Yeasmin, Sabina ^a  

^a UNIVERSITY OF DHAKA   (Bangladesh)

^b DHAKA SHISHU HOSPITAL   (Bangladesh)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BANGLADESH; BETA THALASSEMIA; CLINICAL ARTICLE; GENE; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; HBB GENE; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PREVALENCE; SPLICING DEFECT; ASIAN CONTINENTAL ANCESTRY GROUP; BETA-THALASSEMIA; CHEMISTRY; DNA SEQUENCE; ETHNOLOGY; GENE FREQUENCY; GENETICS; MUTATION; PROCEDURES;

HEMOGLOBIN BETA CHAIN;

ASIAN CONTINENTAL ANCESTRY GROUP; BANGLADESH; BETA-GLOBINS; BETA-THALASSEMIA; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETICS, POPULATION; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 77954910716     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0160     Document Type: Article

References (25)

1. Abolghasemi H, Amid A, Zeinali S, et al. (2007) Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol 29:233-238.
2. Bouhass R, Aguercif M, Trabuchet G, Godet J (1990) A new mutation at IVS1 nt 2(T?A), in beta-thalassemia from Algeria. Blood 5:1054-1055.
3. Chibani J, Vidaud M, Duquesnoy P, et al. (1988) The peculiar spectrum of beta-thalassemia genes in Tunisia. Hum Genet 78:190-192.
4. Chomczynski P, Mackey K, Drews R, et al. (1997) DNAzol: a reagent for the rapid isolation of genomic DNA. Biotechniques 22:550-553.
5. Colah R, Surve R, Sawant P, et al. (2007) HPLC studies in he-moglobinopathies. Indian J Pediatr 74:657-662.
6. Edison ES, Shaji RV, Devi SG, et al. (2008) Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. Clin Genet 73: 331-337.
7. El-Harith E, Kuhanau W, Schimidtke J, et al. (1999) Identification and clinical presentation of beta thalassemia mutations in the eastern region of Saudi Arabia. J Med Genet 36: 936-937.
8. Goncalves J, Faustino P, Lavinha J, et al. (1994) An African origin for an "American black" beta zero-thalassemia mutation? Am J Hematol 46:373-374 (letter).
9. Gonzalez-Redondo JM, Stoming TA, Kutlar F, et al. (1989) Severe Hb S-beta zero-thalassemia with a TC substitution in the donor splice site of the first intron of the beta-globin gene. Br J Haematol 71:113-117.
10. Jamsai D, Zaibak F, Vadolas J, et al. (2006) A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemia. Genomics 88:309-315.
11. Kazazian HH Jr., Orkin SH, Antonarakis SE, et al. (1984) Molecular characterization of seven beta-thalassemia mutations in Asian Indians. EMBO J 3:593-596.
12. Khan WA, Alam MA, Sarwardi G, et al. (1999) Genotypic study of Bangladeshi thalassemia patients and transfusion requirements. Dhaku Shishu (Child) Hosp J 15:37-39.
13. Khan WA, Banu B, Amin SK, et al. (2005) Prevalence of Beta thalassemia trait and Hb E trait in Bangladeshi school children and health burden of thalassemia in our population. Dhaku Shishu (Child) Hosp J 21:1-7.
14. Kimura A, Matsunaga E, Takihara Y, et al. (1983) Structural analysis of a beta thalassemia gene found in Taiwan. J Biol Chem 258:2748-2749.
15. Lie-Injo LE, Cai SP, Wahidijat I, et al. (1989) Beta-thalassemia mutations in Indonesia and their linkage to beta haplotypes. Am J Hum Genet 45:971-975.
16. Old JM (2001) DNA Based Diagnosis of the Hemoglobin Disorders. Cambridge University Press, Cambridge.
17. Panigrahi I, Marwaha R (2007) Mutational spectrum of thalas-semias in India. Indian J Hum Genet 13:36-37.
18. Patrinos GP, Giardine B, Riemer C, et al. (2004) Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 32:D537-D541.
19. Tan JA, George E, Tan KL, et al. (2004) Molecular defects in the beta-globin gene identified in different ethnic groups/populations during prenatal diagnosis for beta-thalassemia: a Malaysian experience. Clin Exp Med 4:142-147.
20. Thein SL, Winichagoon P, Hesketh C, et al. (1990) The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis. Am J Hum Genet 47:369-375.
21. Treisman R, Orkin SH, Maniatis T (1983) Specific transcription and RNA splicing defects in five cloned beta-thalassemia genes. Nature 301:591-596.
22. Varawalla NY, Fitches AC, Old JM (1992) Analysis of beta-globin gene haplotypes in Asian Indians: origin and spread of beta-thalassemia on the Indian subcontinent. Hum Genet 90:443-449.
23. Vrettou C, Traeger-Synodinos J, Tzetis M, et al. (2003) 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 49:769-776.
24. Weatherall D (2001) Phenotype-genotype relationships in monogenic disease: lessons from the thalassemias. Nat Rev Genet 2:245-255.
25. Wong C, Antonarakis SE, Goff SC, et al. (1986) On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups. Proc Natl Acad Sci USA 83:6529-6532.