CLINICAL GENETIC DEPARTMENT, NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY (NIGEB), KARAJ HIGH WAY, PAJOUHESH RD, TEHRAN, IRAN
Abstract
Objective: To study the possible association between high levels of fetal haemoglobin (HbF) in β-thalassemia intermedia patients and HS-111 and 3`HS1 sequence variations. Materials and Methods: In this study the 3' HS-1 and HS-111 regions of 30 ß-thalassaemia intermedia patients (ß°/ß°) with high levels of HbF 21 ß-thalassemia major patients and 40 normal Iranian individuals were analyzed by single-strand conformation polymorphism (SSCP) and polymerase chain reaction (PCR) sequencing. Results: Two nucleotide variations in 3' HS111 (-21A>G) and 3`HS1 (179C>T) were identified. The most frequent sequence variation was 3' HS111 (-21A) in the intermedia patients and 3`HS111 (-21G) in the major thalassemia patients. In contrast to the 3`HS1 marker both 3'HS111 A and G variants showed a correlation with each studied group. Conclusion: The HS111 marker in conjunction with other parameters could be used as appropriate genetic markers to discriminate β-thalassemia intermedia patients (β°/β°) with high levels of HbF from β-thalassemia major patients.
Hamid, M., Karimipoor, M., Zeinali, S., Akbari, M. T., Kokabi, L., & Mahjoubi, F. (2010). Molecular Analysis Of HS-111 And 3`HS1 Variations In Β-Thalassemia Intermedia Patients With High Levels Of HbF. Cell Journal (Yakhteh), 11(4), 418-423.
MLA
Mohammad Hamid; Morteza Karimipoor; Sirous Zeinali; Mohammad taghi Akbari; Leila Kokabi; Frouzandeh Mahjoubi. "Molecular Analysis Of HS-111 And 3`HS1 Variations In Β-Thalassemia Intermedia Patients With High Levels Of HbF". Cell Journal (Yakhteh), 11, 4, 2010, 418-423.
HARVARD
Hamid, M., Karimipoor, M., Zeinali, S., Akbari, M. T., Kokabi, L., Mahjoubi, F. (2010). 'Molecular Analysis Of HS-111 And 3`HS1 Variations In Β-Thalassemia Intermedia Patients With High Levels Of HbF', Cell Journal (Yakhteh), 11(4), pp. 418-423.
VANCOUVER
Hamid, M., Karimipoor, M., Zeinali, S., Akbari, M. T., Kokabi, L., Mahjoubi, F. Molecular Analysis Of HS-111 And 3`HS1 Variations In Β-Thalassemia Intermedia Patients With High Levels Of HbF. Cell Journal (Yakhteh), 2010; 11(4): 418-423.