Beta globin gene haplotypes associated with hemoglobin D-Punjab in northern Iran
Background and Objective: Hemoglobin D-Punjab is one of the variant of hemoglobin caused by a mutation on position 121 of beta globin gene which is frequent in India, Pakistan and Iran. Heterozygote form of this variant is mainly asymptomatic while in combination with hemoglobin S, severe form of an...
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Golestan University of Medical Sciences
2015-03-01
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Series: | مجله دانشگاه علوم پزشکی گرگان |
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Online Access: | http://goums.ac.ir/journal/browse.php?a_code=A-10-1-815&slc_lang=en&sid=1 |
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author | Jalali H Mahdavi MR Kosaryan M Karami H Roshan P Maddahian F |
author_facet | Jalali H Mahdavi MR Kosaryan M Karami H Roshan P Maddahian F |
author_sort | Jalali H |
collection | DOAJ |
description | Background and Objective: Hemoglobin D-Punjab is one of the variant of hemoglobin caused by a mutation on position 121 of beta globin gene which is frequent in India, Pakistan and Iran. Heterozygote form of this variant is mainly asymptomatic while in combination with hemoglobin S, severe form of anemia occure. This study was carried out to determine the beta globin gene haplotypes associated with hemoglobin D-Punjab in Northern Iran. Methods: This descriptive study was carried out on families of 18 individuals whom were carriers of hemoglobin D-Punjab in Sari in Northern Iran. Genomic DNA was extracted from peripheral blood samples using Phenol-chloroform standard protocol. In order to identify different haplotypes associated with hemoglobin D-Punjab, PCR-RFLP method and family linkage analysis were used. Results: In 17 subjects hemoglobin D-Punjab was linked to [+ - - - - + +] haplotype and in one case association with [- + + - + + +] haplotype was observed. Conclusion: The hemoglobin D-Punjab alleles have mainly unicentric origin and [- + + - + + +] rare haplotype may have different genetic origin or is created as a result of gene recombination. |
first_indexed | 2024-12-18T04:08:05Z |
format | Article |
id | doaj.art-32c71a4f4cd44126b1832805b8341b8e |
institution | Directory Open Access Journal |
issn | 1562-4765 2008-4080 |
language | fas |
last_indexed | 2024-12-18T04:08:05Z |
publishDate | 2015-03-01 |
publisher | Golestan University of Medical Sciences |
record_format | Article |
series | مجله دانشگاه علوم پزشکی گرگان |
spelling | doaj.art-32c71a4f4cd44126b1832805b8341b8e2022-12-21T21:21:32ZfasGolestan University of Medical Sciencesمجله دانشگاه علوم پزشکی گرگان1562-47652008-40802015-03-01171108113Beta globin gene haplotypes associated with hemoglobin D-Punjab in northern IranJalali H0Mahdavi MR1Kosaryan M2Karami H3Roshan P4Maddahian F5 Ph.D by Research Candidate in Thalassemia, Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran Assistant Professor, Department of Laboratory Medicine, Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran Professor, Department of Pediatrics, Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran Associate Professor, Hematology and Oncology, Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran M.Sc in Immunology, Sina Mehr Research Center, Sari, Iran M.Sc in Genetic, Sina Mehr Research Center, Sari, Iran Background and Objective: Hemoglobin D-Punjab is one of the variant of hemoglobin caused by a mutation on position 121 of beta globin gene which is frequent in India, Pakistan and Iran. Heterozygote form of this variant is mainly asymptomatic while in combination with hemoglobin S, severe form of anemia occure. This study was carried out to determine the beta globin gene haplotypes associated with hemoglobin D-Punjab in Northern Iran. Methods: This descriptive study was carried out on families of 18 individuals whom were carriers of hemoglobin D-Punjab in Sari in Northern Iran. Genomic DNA was extracted from peripheral blood samples using Phenol-chloroform standard protocol. In order to identify different haplotypes associated with hemoglobin D-Punjab, PCR-RFLP method and family linkage analysis were used. Results: In 17 subjects hemoglobin D-Punjab was linked to [+ - - - - + +] haplotype and in one case association with [- + + - + + +] haplotype was observed. Conclusion: The hemoglobin D-Punjab alleles have mainly unicentric origin and [- + + - + + +] rare haplotype may have different genetic origin or is created as a result of gene recombination.http://goums.ac.ir/journal/browse.php?a_code=A-10-1-815&slc_lang=en&sid=1Hemoglobin D-PunjabHaplotypePCR-RFLPIran |
spellingShingle | Jalali H Mahdavi MR Kosaryan M Karami H Roshan P Maddahian F Beta globin gene haplotypes associated with hemoglobin D-Punjab in northern Iran مجله دانشگاه علوم پزشکی گرگان Hemoglobin D-Punjab Haplotype PCR-RFLP Iran |
title | Beta globin gene haplotypes associated with hemoglobin D-Punjab in northern Iran |
title_full | Beta globin gene haplotypes associated with hemoglobin D-Punjab in northern Iran |
title_fullStr | Beta globin gene haplotypes associated with hemoglobin D-Punjab in northern Iran |
title_full_unstemmed | Beta globin gene haplotypes associated with hemoglobin D-Punjab in northern Iran |
title_short | Beta globin gene haplotypes associated with hemoglobin D-Punjab in northern Iran |
title_sort | beta globin gene haplotypes associated with hemoglobin d punjab in northern iran |
topic | Hemoglobin D-Punjab Haplotype PCR-RFLP Iran |
url | http://goums.ac.ir/journal/browse.php?a_code=A-10-1-815&slc_lang=en&sid=1 |
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