Human Gene Mutations and Migratory Flows—Portugal and the Mediterranean — Oak Academic Publishing
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Human Gene Mutations and Migratory Flows—Portugal and the Mediterranean
Laboratório de Genética Molecular, Departamento de Ciencias da Vida, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Campus da Caparica, Caparica, Portugal
1 Laboratório de Genética Molecular, Departamento de Ciencias da Vida, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Campus da Caparica, Caparica, Portugal
This study presents a compilation of results obtained by several research groups on the mutational analysis of β thalassemia in Portugal and in Morocco, and compares the mutation/haplotype associations in both countries. We use the β thal mutations and haplotypes as genetic markers to address the question of gene flows through the Mediterranean basin area into the Iberian Peninsula and Portugal since the Phoenician trade up to recent times.
Keywordsβ ThalassemiaGenesHistory
Amselem, S., Nunes, V., Vidaud, M. et al. (1988). Determination of the Spectrum of β b Thalassemia Genes in Spain by Dot-Blot Analysis of Amplified β Globin DNA. American Journal of Human Genetics, 43, 95-100.
Antonarakis, S., Kazazian Jr., H. H., & Orkin, S. H. (1985). DNA Polymorphisms and Molecular Pathology of the Human Globin Gene Clusters. Human Genetics, 69, 1-14. http://dx.doi.org/10.1007/BF00295521
Arnaiz-Villena, A. et al. (1999). Iberia: Population Genetics, Anthropology and Linguistics. Human Biology, 71, 725-743.
Benito, A. (1996). β Thalassemia in South-Western Spain: High Frequency of βIVSI-1(G-A) Mutation. British Journal of Haematology, 92, 336-338.
Bennani, C., Bouhass, R., Perrin-Percontal, P. et al. (1994). Anthropological Approach to the Heterogeneity of β Talassemia Mutations in Northern Africa. Human Biology, 66, 369-382.
Bosch, E. et al. (2001). High Resolution Analysis of Human Y Chromosome Variation Shows a Sharp Discontinuity and Limited Gene Flow between Northwestern Africa and the Iberian Peninsula. American Journal of Human Genetics, 68, 1019-1029. http://dx.doi.org/10.1086/319521
Bruce-Chwatt, L. J., & Zulueta, J. (1980). Erradicacao da malária em Portugal. Lisboa: S. E. Saude.
Cabeda, J. M., Correia, C., Estevinho, A. et al. (1999). Unexpected Pattern of β Globin Mutations in β-Thalassaemia Patients from Northern Portugal. British Journal of Haematology, 105, 68-74. http://dx.doi.org/10.1111/j.1365-2141.1999.01295.x
Cao, A., Gossens, M., & Pirastu, M. (1989). β Thalassaemia Mutations in Mediterranean Populations. British Journal of Haematology, 71, 309-312. http://dx.doi.org/10.1111/j.1365-2141.1989.tb04285.x
Chibani, J., Vidaud, M., Duquesnoy, P., Bergé-Lefranc, J. L., Pirastu, M., Ellouze, F. et al. (1988). The Peculiar Spectrum of β Thalassemia Genes in Tunisia. Human Genetics, 78, 190-192. http://dx.doi.org/10.1007/BF00278196
Encyclopaedia Britannica (1969). Encyclopaedia Britannica: 200th Anniversary Edition (Vol. 21). Chicago, IL: William Benton Publisher.
Fabiao, C. (1992). O passado protohistórico e romano. In J. Matoso (dir.), História de Portugal (Vol. 5, pp. 79-167). Lisboa: Editora Circulo de Leitores.
Faustino, P., Osório-Almeida, L., Barbot, J., Espírito-Santo, D., Goncalves, J., Romao, L. et al. (1992). Novel Promoter and Splice Junction Defects Add to the Genetic, Clinical or Geographic Heterogeneity of β Thalassemia in the Portuguese Population. Human Genetics, 89, 573-576. http://dx.doi.org/10.1007/BF00219188
Faustino, P., Pacheco, P., Loureiro, P., Nogueira, P. J., & Lavinha, J. (1999). The Geographic Pattern of β Thalassaemia Mutations in the Portuguese Population. British Journal of Haematology, 107, 903-904. http://dx.doi.org/10.1046/j.1365-2141.1999.01821.x
Flint, J., Harding, R., Clegg, J. B., & Boyce, A. J. (1993). Why Are Some Genetic Diseases Common? Human Genetics, 91, 91-117. http://dx.doi.org/10.1007/BF00222709
Goncalves, I., Ducrocq, R., Lavinha, J., Nogueira, P. J., Peres, M. J., Picanao, I. et al. (1998). Combined Effect of Two Different Polymorphic Sequences within the Globin Cluster on the Level of HBF. American Journal of Hematology, 57, 269-276. http://dx.doi.org/10.1002/(SICI)1096-8652(199804)57:4 3.0.CO;2-S
Goncalves, I., Henriques, A., Raimundo, A. et al. (2002). Fetal Hemoglobin Elevation in Hb Lepore Heterozygotes and Its Correlation with β Globin Cluster Linked Determinants. American Journal of Hematology, 69, 95-102. http://dx.doi.org/10.1002/ajh.10019
Inez, F. et al. (1993). Contribuicao do rastreio de portadores para a prevencao da β talassémia e da drepanocitose na populacao portuguesa: Um estudo multicentrico. Arquivos INSA, 19, 27-31.
Lemsaddek, W. (2005). Analise molecular dos genes de beta e gama globina na populacao portuguesa e marroquina. Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa (UNL). Ph.D. Thesis.
Lemsaddek, W., Picanao, I., Seuanes, F. et al. (2003). Spectrum of β Thalassemia Mutations and HbF Levels in the Heterozygous Moroccan Population. American Journal of Hematology, 73, 161-168. http://dx.doi.org/10.1002/ajh.10358
Lemsaddek, W., Picanao, I., Seuanes, F. et al. (2004). The β Thalassemia Mutation/Haplotype Distribution in the Moroccan Population. Hemoglobin, 28, 25-37. http://dx.doi.org/10.1081/HEM-120028884
Maca-Mayer, N., González, A. M., Pestano, J., Flores, C., Larruga, J. M., & Cabrera, V. M. (2003). Mitochondrial DNA Transit between West Asia and North Africa Inferred from U6 Phylogeography. BMC Genetics, 4, 15.
Martins, M. C., Olim, G., Melo, J. et al. (1993). Hereditary Anaemias in Portugal: Epidemiology, Public Health Significance and Control. Journal of Medical Genetics, 30, 235-239. http://dx.doi.org/10.1136/jmg.30.3.235
Mata, D. R. (1993). Los fenícios de época arcaica—Siglos VIII/VII a.C. en la Bahia de Cadiz. Estado de la cuestion. In E. Orientais (Ed.), Os Fenícios no território Português (Vol. 4, pp. 23-72). Lisboa: UNL, Instituto Oriental.
Pirastu, M. et al. (1988). Delineation of Specific β Thalassemia Mutations in High Risk Areas of Italy: A Prerequisite for Prenatal Diagnosis. Blood, 71, 983-988.
Ribeiro, M. L. et al. (1997). Genetic Heterogeneity of β Thalassemia in Populations of the Iberian Peninsula. Hemoglobin, 21, 261-269. http://dx.doi.org/10.3109/03630269708997387
Rosatelli, M. C., Tuveri, T., Scalas, M. T., Leoni, G. B., Sardu, R., Faà, V. et al. (1992). Molecular Screening and Fetal Diagnosis of β Thalassemia in the Italian Population. Human Genetics, 89, 585-589.
Rouabhi, F., Amselem, S., Krishnamoorthy, R., Adjrad, L., Girot, R., Chardin, P. et al. (1988). DNA Haplotype Distribution in Algerian β Thalassaemia Patients. Human Genetics, 79, 373-376. http://dx.doi.org/10.1007/BF00282180
Schiliro, G., di Gregorio, F., Samperi, P., Mirabile, E., Liang, R., Cürük, M. A. et al. (1995). Genetic Heterogeneity of β Thalassemia in Southeast Sicily. American Journal of Hematology, 48, 5-11. http://dx.doi.org/10.1002/ajh.2830480103
Sforza, C. et al. (1993). Demic Expansions and Human Evolution. Science, 259, 639-646. http://dx.doi.org/10.1126/science.8430313
Tavares, A. A. (1993). Fenícios e Massienos na Península Ibérica. In E. Orientais (Ed.), Os Fenícios no território Português (Vol. 4). Lisboa: Instituto Oriental, UNL.
Torres, C. (1992). O Gharb Al Andaluz. In J. Matoso (dir.), História de Portugal (Vol. 5, pp. 363-441). Lisboa: Circulo de Leitores.
Varela Gomes, M. (1993). O estabelecimento fenício-púnico do Cerro da Rocha Branca (Silves). In E. Orientais (Ed.), Os Fenícios no território (Vol. 4, pp. 73-107). Lisboa: Instituto Oriental, UNL.
Waye, J. S., Borys, S., Eng, B., Patterson, M., Chui, D. H. K., Badr El-Din, O. M. K. et al. (1999). Spectrum of β Thalassemia Mutations in Egypt. Hemoglobin, 23, 225-261. http://dx.doi.org/10.3109/03630269909005706