Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF
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-thalassaemiaintermedia patients (ß°/ß°) with high...
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Royan Institute (ACECR), Tehran
2010-01-01
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Series: | Cell Journal |
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Online Access: | http://www.celljournal.org/library/upload/article/Hamid.pdf |
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author | Mohammad Hamid Morteza Karimipoor Sirous Zeinali Mohammad taghi Akbari Leila Kokabi Frouzandeh Mahjoubi |
author_facet | Mohammad Hamid Morteza Karimipoor Sirous Zeinali Mohammad taghi Akbari Leila Kokabi Frouzandeh Mahjoubi |
author_sort | Mohammad Hamid |
collection | DOAJ |
description | 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-thalassaemiaintermedia patients (ß°/ß°) with high levels of HbF, 21 ß-thalassemia major patientsand 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) wereidentified. The most frequent sequence variation was 3' HS111 (-21A) in the intermediapatients and 3`HS111 (-21G) in the major thalassemia patients. In contrast to the 3`HS1marker, 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 asappropriate genetic markers to discriminate β-thalassemia intermedia patients (β°/β°) withhigh levels of HbF from β-thalassemia major patients. |
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id | doaj.art-4fa4c59c988d4e51a075d49d84dff630 |
institution | Directory Open Access Journal |
issn | 2228-5806 2228-5814 |
language | English |
last_indexed | 2024-12-13T02:40:23Z |
publishDate | 2010-01-01 |
publisher | Royan Institute (ACECR), Tehran |
record_format | Article |
series | Cell Journal |
spelling | doaj.art-4fa4c59c988d4e51a075d49d84dff6302022-12-22T00:02:18ZengRoyan Institute (ACECR), TehranCell Journal2228-58062228-58142010-01-01114418423Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbFMohammad HamidMorteza KarimipoorSirous ZeinaliMohammad taghi AkbariLeila KokabiFrouzandeh MahjoubiObjective: 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-thalassaemiaintermedia patients (ß°/ß°) with high levels of HbF, 21 ß-thalassemia major patientsand 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) wereidentified. The most frequent sequence variation was 3' HS111 (-21A) in the intermediapatients and 3`HS111 (-21G) in the major thalassemia patients. In contrast to the 3`HS1marker, 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 asappropriate genetic markers to discriminate β-thalassemia intermedia patients (β°/β°) withhigh levels of HbF from β-thalassemia major patients.http://www.celljournal.org/library/upload/article/Hamid.pdfβ-ThalassemiaFetal HaemoglobinSingle-Strand Confirmation Polymorphism |
spellingShingle | 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 β-Thalassemia Fetal Haemoglobin Single-Strand Confirmation Polymorphism |
title | Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF |
title_full | Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF |
title_fullStr | Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF |
title_full_unstemmed | Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF |
title_short | Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF |
title_sort | molecular analysis of hs 111 and 3 hs1 variations in β thalassemia intermedia patients with high levels of hbf |
topic | β-Thalassemia Fetal Haemoglobin Single-Strand Confirmation Polymorphism |
url | http://www.celljournal.org/library/upload/article/Hamid.pdf |
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