Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration
Beta thalassemia is an autosomal recessive disorder characterized by reduced (β+) or absent (β0) beta‐globin chain synthesis. In Lebanon it is the most predominant genetic defect. In this study we investigated the religious and geographic distribution of the β‐thalassemia mutations identified in Leb...
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| مؤلفون آخرون: | , , , , , |
| التنسيق: | article |
| منشور في: |
2005
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| الوصول للمادة أونلاين: | http://hdl.handle.net/10725/11139 https://doi.org/10.1046/j.1529-8817.2004.00138.x http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://onlinelibrary.wiley.com/doi/full/10.1046/j.1529-8817.2004.00138.x |
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| _version_ | 1864513488310763520 |
|---|---|
| author | Makhoul, N.J. |
| author2 | Wells, R.S. Kaspart, H. Shbaklo, H. Taher, A. Chakar, N. Zalloua, P.A. |
| author2_role | author author author author author author |
| author_facet | Makhoul, N.J. Wells, R.S. Kaspart, H. Shbaklo, H. Taher, A. Chakar, N. Zalloua, P.A. |
| author_role | author |
| dc.creator.none.fl_str_mv | Makhoul, N.J. Wells, R.S. Kaspart, H. Shbaklo, H. Taher, A. Chakar, N. Zalloua, P.A. |
| dc.date.none.fl_str_mv | 2005 2019-07-25T07:24:52Z 2019-07-25T07:24:52Z 2019-07-25 |
| dc.identifier.none.fl_str_mv | 1469-1809 http://hdl.handle.net/10725/11139 https://doi.org/10.1046/j.1529-8817.2004.00138.x Makhoul, N. J., Wells, R. S., Kaspar, H., Shbaklo, H., Taher, A., Chakar, N., & Zalloua, P. A. (2005). Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. Annals of human genetics, 69(1), 55-66. http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://onlinelibrary.wiley.com/doi/full/10.1046/j.1529-8817.2004.00138.x |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | Annals of Human Genetics |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | Beta thalassemia is an autosomal recessive disorder characterized by reduced (β+) or absent (β0) beta‐globin chain synthesis. In Lebanon it is the most predominant genetic defect. In this study we investigated the religious and geographic distribution of the β‐thalassemia mutations identified in Lebanon, and traced their precise origins. A total of 520 β‐globin chromosomes from patients of different religious and regional backgrounds was studied. Beta thalassemia mutations were identified using Amplification Refractory Mutation System (ARMS) PCR or direct gene sequencing. Six (IVS‐I‐110, IVS‐I‐1, IVS‐I‐6, IVS‐II‐1, cd 5 and the C>T substitution at cd 29) out of 20 β‐globin defects identified accounted for more than 86% of the total β‐thalassemia chromosomes. Sunni Muslims had the highest β‐thalassemia carrier rate and presented the greatest heterogeneity, with 16 different mutations. Shiite Muslims followed closely with 13 mutations, whereas Maronites represented 11.9% of all β‐thalassemic subjects and carried 7 different mutations. RFLP haplotype analysis showed that the observed genetic diversity originated from both new mutational events and gene flow from population migration. This study provides information about the types and distribution of β‐thalassemia mutations within each religious group and geographic region, which is essential for the implementation of screening and prevention programs. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_74adc828758ae5fd1e39fe3cf53d5fb0 |
| identifier_str_mv | 1469-1809 Makhoul, N. J., Wells, R. S., Kaspar, H., Shbaklo, H., Taher, A., Chakar, N., & Zalloua, P. A. (2005). Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. Annals of human genetics, 69(1), 55-66. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/11139 |
| publishDate | 2005 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migrationMakhoul, N.J.Wells, R.S.Kaspart, H.Shbaklo, H.Taher, A.Chakar, N.Zalloua, P.A.Beta thalassemia is an autosomal recessive disorder characterized by reduced (β+) or absent (β0) beta‐globin chain synthesis. In Lebanon it is the most predominant genetic defect. In this study we investigated the religious and geographic distribution of the β‐thalassemia mutations identified in Lebanon, and traced their precise origins. A total of 520 β‐globin chromosomes from patients of different religious and regional backgrounds was studied. Beta thalassemia mutations were identified using Amplification Refractory Mutation System (ARMS) PCR or direct gene sequencing. Six (IVS‐I‐110, IVS‐I‐1, IVS‐I‐6, IVS‐II‐1, cd 5 and the C>T substitution at cd 29) out of 20 β‐globin defects identified accounted for more than 86% of the total β‐thalassemia chromosomes. Sunni Muslims had the highest β‐thalassemia carrier rate and presented the greatest heterogeneity, with 16 different mutations. Shiite Muslims followed closely with 13 mutations, whereas Maronites represented 11.9% of all β‐thalassemic subjects and carried 7 different mutations. RFLP haplotype analysis showed that the observed genetic diversity originated from both new mutational events and gene flow from population migration. This study provides information about the types and distribution of β‐thalassemia mutations within each religious group and geographic region, which is essential for the implementation of screening and prevention programs.PublishedN/A2019-07-25T07:24:52Z2019-07-25T07:24:52Z20052019-07-25Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1469-1809http://hdl.handle.net/10725/11139https://doi.org/10.1046/j.1529-8817.2004.00138.xMakhoul, N. J., Wells, R. S., Kaspar, H., Shbaklo, H., Taher, A., Chakar, N., & Zalloua, P. A. (2005). Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. Annals of human genetics, 69(1), 55-66.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttps://onlinelibrary.wiley.com/doi/full/10.1046/j.1529-8817.2004.00138.xenAnnals of Human Geneticsinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/111392021-03-19T10:47:35Z |
| spellingShingle | Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration Makhoul, N.J. |
| status_str | publishedVersion |
| title | Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration |
| title_full | Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration |
| title_fullStr | Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration |
| title_full_unstemmed | Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration |
| title_short | Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration |
| title_sort | Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration |
| url | http://hdl.handle.net/10725/11139 https://doi.org/10.1046/j.1529-8817.2004.00138.x http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php https://onlinelibrary.wiley.com/doi/full/10.1046/j.1529-8817.2004.00138.x |