Rare and unexpected beta thalassemic mutations in Qazvin province of Iran

African Journal of Biotechnology

Volumn 9, Issue 1, 2010, Pages 095-101

  Sarookhani, Mohammad Reza ^a   Ahmadi, Mohammad Hosein ^a  

^a QAZVIN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Beta globin gene; Direct sequencing; Qazvin; Rare thalassemia mutations

Indexed keywords

BETA GLOBIN; DNA; EDETIC ACID; HEMOGLOBIN MONROE; HEMOGLOBIN S; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ARTICLE; BETA THALASSEMIA; BLOOD SAMPLING; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GLOBIN GENE; HUMAN; HUMAN CELL; IRAN; LEUKOCYTE; MAJOR CLINICAL STUDY; VENOUS BLOOD;

EID: 74749087235     PISSN: None     EISSN: 16845315     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Agarwal N, Kutlar F, Mariluz P, Henshaw M, Ching NO, Gaikwad MN, Reading S, Bailey L, Kutlar A, Prchal JT (2007) Missence mutation of the last nucleotide of exon 1 (G to C) of beta-globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele. Haematologica, 92(12): 1715-1716.
2. Çi dem A (2002). The Frequency and Distribution Pattern of ß-Thalassemia Mutations in Turkey. Turk. J. Hematol. 19(2): 309-315.
3. Derakhshandeh-Peykar P, Akhavan-Niaki H, Tamaddoni A, Ghawidel-Parsa S, Naieni KH, Rahmani M, Babrzadeh F, Dilmaghani-Zadeh M, Farhud DD (2007). Distribution of -thalassemia mutations in the northern provinces of Iran. Hemoglobin, 31(3): 351-356.
4. st ed. India. Jaypee brothers medical publishers Co; pp. 140-147.
5. Mirasena S, Shimbhu D, Sanguansermseri M, Sanguansermseri T. (2007). The spectrum of -thalassemia mutations in phitsanulok province: Development of multiplex ARMS for mutation Detection. Naresuan University Journal, 15(1): 43-53.
6. Najmabadi H, Karimi-Nejad R, Sahebjam S, Pourfarzad F, Teimourian S, Sahebjam F, Amirizadeh N, Karimi-Nejad MH (2001). The -thalassemia mutation spectrum in the Iranian population. Hemoglobin, 25(3): 285-296.
7. Najmabadi H, Neishabury M, Sahebjam F, Kahrizi K, Shafaghati Y, Nikzat N, Jalalvand M, Aminy F, Bany Hashemi S, Moghimi B, Noorian AR Jannati A Mohammadi M, Javan K (2003). The Iranian Human Mutation Gene Bank: A data and sample resource for worldwide collaborative genetics research. Hum. Mutat. 21: 146-150.
8. Najmabadi H, Pourfathollah AA, Neishabury M, Sahebjam F, Krugluger W, Oberkanins C (2002). Rare and unexpected mutations among Iranian b-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing. Haematologica. 87: 1113-1114.
9. Najmabadi H, Teimourian SH, Khatibi T, Neishabury M, Poufrafzad F, Jalil Negad S, Azad M, Oberkanins CH, Krugluger W (2001). Comparison of Amplification Refractory System (ARMS) and Reverse Hybridization for the detection of the 10 most common Beta-Thalassemia mutations within the Iranian Population. Arch. Iran Med. 4(4):165-170
10. Old JM, Varawalla NY, Weatherall DJ (1990). Rapid detection and prenatal diagnosis of b-thalassemia: studies in Indian and Cypriot populations in the U.K. Lancet, 336: 834-837.
11. Oner AF, Ozer R, Uner A, Arslan S, Gumruk F (2001). Beta-Thalassemia Mutations in the East of Turkey. Turk. J. Hematol. 18(4): 239-241.
12. Rahimi F, keikhaei B, Aberumand M (2007). PrenatalDiagnosis (PND) of beta thalessemia in the Khuzestan province Iran. J. Clin. Diagn. Res. 1: 454-459.
13. Rahimi Z, Vaisi Raygani A, Merat M, Haghshenass N, Gerard RL, Nagel RK (2006). Thalassemia mutations in southern Iran. Iran J. Med. Sci. 31(2): 70-73
14. Roudkanar MH, Najmabadi H, Derakhshandeh P, Farhud DD (2003). Detection of rare and unknown mutations in -thalassemia traits in Iran. Iran. J. Public Health, 32(1): 11-14.
15. Sanger F (1997). DNA sequencing with chain termination inhibitors. Proc. Natl. Acad. Sci. 74: 5463-5467.
16. Sarookhani MR, Ahmadi MH, Amirizadeh N (2009). Molecular Spectrum of Beta-Globin Mutations in Transfusion-Dependent Patients with Thalassemia in Qazvin Province, Iran. Iran J. Med. Sci. 34(1): 17-22.
17. Yavarian M (2005). Hemoglobinopathies in Iran; molecular spectrum, prevention and treatment. Leiden university publications. The Netherland. ( Available on: http://hdl.handle.net/1887/3728.)