Heterozygosis deficit of polymorphic markers linked to the β-globin gene cluster region in the Iranian population
Objective(s): Iran is considered as one of the high-prevalence areas for β-thalassemia with a rate of about 10% carrier frequency. Molecular diagnosis of the disease is performed both by direct sequencing and indirectly by the use of polymorphic markers present in the beta globin gene cluster. Howev...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Mashhad University of Medical Sciences
2015-06-01
|
| Series: | Iranian Journal of Basic Medical Sciences |
| Subjects: | |
| Online Access: | http://ijbms.mums.ac.ir/pdf_4531_889f2e4516bdf1d93d546cb91c183998.html |
| _version_ | 1818392634813579264 |
|---|---|
| author | Tahereh Moradi Reihaneh Vallian Zahra Fazeli Asieh Haghighatnia Sadeq Vallian |
| author_facet | Tahereh Moradi Reihaneh Vallian Zahra Fazeli Asieh Haghighatnia Sadeq Vallian |
| author_sort | Tahereh Moradi |
| collection | DOAJ |
| description | Objective(s): Iran is considered as one of the high-prevalence areas for β-thalassemia with a rate of about 10% carrier frequency. Molecular diagnosis of the disease is performed both by direct sequencing and indirectly by the use of polymorphic markers present in the beta globin gene cluster. However, to date there is no reliable information on the application of the markers in the Iranian population. Here we report the results of an extended molecular analysis of five RFLP markers, XmnI, HindIIIA, HindIIIG, RsaI and HinfI, located within the β-globin gene cluster region in four subpopulations of Iran.
Materials and Methods:A total of 552 blood samples taken from the Iranian subpopulations including Isfahan, Chaharmahal-O-Bakhtiari, Khuzestan and Hormozgan were genotyped using PCR-RFLP and sequencing. The allele frequency, the expected and observed heterozygosity, and Shannon's information index (I) of these markers were calculated.
Results:Distribution of the allele frequencies for XmnI, HindIIIA, HindIIIG, RsaI and HinfI polymorphic markers did not differ significantly among the subpopulations examined. Overall observed heterozygosity ranged from 0.1706 for HindIIIA to 0.4484 for RsaI. The Shannon index was |
| first_indexed | 2024-12-14T05:32:32Z |
| format | Article |
| id | doaj.art-8cad314278de45918a5d1a75a26dd050 |
| institution | Directory Open Access Journal |
| issn | 2008-3866 2008-3874 |
| language | English |
| last_indexed | 2024-12-14T05:32:32Z |
| publishDate | 2015-06-01 |
| publisher | Mashhad University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Basic Medical Sciences |
| spelling | doaj.art-8cad314278de45918a5d1a75a26dd0502022-12-21T23:15:18ZengMashhad University of Medical SciencesIranian Journal of Basic Medical Sciences2008-38662008-38742015-06-011865715754531Heterozygosis deficit of polymorphic markers linked to the β-globin gene cluster region in the Iranian populationTahereh Moradi0Reihaneh Vallian1Zahra Fazeli2Asieh Haghighatnia3Sadeq Vallian4Division of Genetics, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, IranMolecular Genetics Department, Isfahan Medical Genetics Center, Isfahan, IranDepartment of Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IranMolecular Genetics Department, Isfahan Medical Genetics Center, Isfahan, IranDivision of Genetics, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran|Molecular Genetics Department, Isfahan Medical Genetics Center, Isfahan, IranObjective(s): Iran is considered as one of the high-prevalence areas for β-thalassemia with a rate of about 10% carrier frequency. Molecular diagnosis of the disease is performed both by direct sequencing and indirectly by the use of polymorphic markers present in the beta globin gene cluster. However, to date there is no reliable information on the application of the markers in the Iranian population. Here we report the results of an extended molecular analysis of five RFLP markers, XmnI, HindIIIA, HindIIIG, RsaI and HinfI, located within the β-globin gene cluster region in four subpopulations of Iran. Materials and Methods:A total of 552 blood samples taken from the Iranian subpopulations including Isfahan, Chaharmahal-O-Bakhtiari, Khuzestan and Hormozgan were genotyped using PCR-RFLP and sequencing. The allele frequency, the expected and observed heterozygosity, and Shannon's information index (I) of these markers were calculated. Results:Distribution of the allele frequencies for XmnI, HindIIIA, HindIIIG, RsaI and HinfI polymorphic markers did not differ significantly among the subpopulations examined. Overall observed heterozygosity ranged from 0.1706 for HindIIIA to 0.4484 for RsaI. The Shannon index washttp://ijbms.mums.ac.ir/pdf_4531_889f2e4516bdf1d93d546cb91c183998.htmlβ-globin gene cluster regionβ-thalassemiaIranian populationPolymorphic markers |
| spellingShingle | Tahereh Moradi Reihaneh Vallian Zahra Fazeli Asieh Haghighatnia Sadeq Vallian Heterozygosis deficit of polymorphic markers linked to the β-globin gene cluster region in the Iranian population Iranian Journal of Basic Medical Sciences β-globin gene cluster region β-thalassemia Iranian population Polymorphic markers |
| title | Heterozygosis deficit of polymorphic markers linked to the β-globin gene cluster region in the Iranian population |
| title_full | Heterozygosis deficit of polymorphic markers linked to the β-globin gene cluster region in the Iranian population |
| title_fullStr | Heterozygosis deficit of polymorphic markers linked to the β-globin gene cluster region in the Iranian population |
| title_full_unstemmed | Heterozygosis deficit of polymorphic markers linked to the β-globin gene cluster region in the Iranian population |
| title_short | Heterozygosis deficit of polymorphic markers linked to the β-globin gene cluster region in the Iranian population |
| title_sort | heterozygosis deficit of polymorphic markers linked to the β globin gene cluster region in the iranian population |
| topic | β-globin gene cluster region β-thalassemia Iranian population Polymorphic markers |
| url | http://ijbms.mums.ac.ir/pdf_4531_889f2e4516bdf1d93d546cb91c183998.html |
| work_keys_str_mv | AT taherehmoradi heterozygosisdeficitofpolymorphicmarkerslinkedtothebglobingeneclusterregionintheiranianpopulation AT reihanehvallian heterozygosisdeficitofpolymorphicmarkerslinkedtothebglobingeneclusterregionintheiranianpopulation AT zahrafazeli heterozygosisdeficitofpolymorphicmarkerslinkedtothebglobingeneclusterregionintheiranianpopulation AT asiehhaghighatnia heterozygosisdeficitofpolymorphicmarkerslinkedtothebglobingeneclusterregionintheiranianpopulation AT sadeqvallian heterozygosisdeficitofpolymorphicmarkerslinkedtothebglobingeneclusterregionintheiranianpopulation |