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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Main Authors: Jalali H, Mahdavi MR, Kosaryan M, Karami H, Roshan P, Maddahian F
Format: Article
Language:fas
Published: Golestan University of Medical Sciences 2015-03-01
Series:مجله دانشگاه علوم پزشکی گرگان
Subjects:
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.
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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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