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En esta línea de trabajo, dedicada a la diversidad del genoma humano y a los procesos de poblamiento y mestizaje, nuestro grupo ha analizado varios polimorfismos genéticos (inserciones Alu, genes HLA, STRs de la región HLA, Y-STRs, CODIS STRs) en diferentes poblaciones. Hemos profundizado en el conocimiento de los factores causales de la diversidad y de la heterogeneidad genética inter e intrapoblacional, considerando especialmente la influencia del flujo génico.
En este contexto, hemos analizado algunos aspectos del poblamiento del continente europeo, de los efectos de las migraciones en la cuenca mediterránea, los procesos de mestizaje en hispanoamérica y posibles alternativas al origen de los vascos.

Principales publicaciones del grupo sobre esta línea
García-Obregón S, Alfonso-Sánchez MA , Pérez-Miranda AM, Pancorbo MM, Peña JA (2007) Polymorphic Alu insertions and the genetic structure of Iberian Basques.
Journal of Human Genetics 52: 317-327
Fernández-Mestre M, Alfonso-Sánchez MA, Gendzekhadze K, Layrisse Z, Peña JA (In press) Genetic polymorphisms at four STR loci from the HLA region in a Venezuelan population.
Journal of Forensic Sciences
García-Obregón S, Alfonso-Sánchez MA, Pérez-Miranda AM, Vidales C, Arroyo D, Peña JA (In press) Genetic position of Valencia (Spain) in the Mediterranean basin according to ALU insertions.
American Journal of Human Biology
Peña JA, García-Obregón S, Pérez-Miranda AM, Pancorbo MM, Alfonso-Sánchez MA (In press) Gene flow in the Iberian peninsula determined from Y-chromosome STR loci.
American Journal of Human Biology
Fernandez del Pozo V, Alvarez Alvarez M, Fernandez Martinez M, Galdós Alcelay L, Gómez Busto F, Peña JA, Alfonso-Sánchez MA, Zarranz Imirizaldu JJ, Pancorbo MM (In press) Polymorphism in the Cholesterol 24S-Hydroxylase gene (CYP46A1) associated with the APOE3 allele increases the risk of Alzheimer's disease and of mild cognitive impairment progressing to Alzheimer's disease.
Dementia and Geriatric Cognitive Disorders
Pérez-Miranda AM, Alfonso-Sánchez MA, Kalantar A, Peña JA, de Pancorbo MM, Herrera RJ (2005) Allele frequencies of 13 STR loci in autochthonous basques from the province of Vizcaya (Spain).
Forensic Science International 152, 259-262
Pérez-Miranda AM, Alfonso-Sánchez MA, Kalantar A, García-Obregón S, de Pancorbo MM, Peña JA, Herrera RJ (2005) Microsatellite data support subpopulation structuring among basques.
J. Hum Genet 50, 403-414
Pérez-Miranda AM, Alfonso-Sánchez MA, Peña A, de Pancorbo MM, Herrera MJ (2005) Genetic polymorphism at 13 STR loci in autochthonous basques from Alava province (Spain).
Legal Medicine 7, 58-61
Peña, J.A., Alfonso-Sánchez, M.A., Pérez-Miranda, A., García-Obregón, S. (2004) Flujo génico y presiones selectivas en Europa. Una aproximación a partir de clinas de ADN codificante y no codificante.
Antropo 8, 117-122. http://www.didac.ehu.es/antropo/
Pérez-Miranda AM, Alfonso-Sánchez MA, Vidales MC, Calderón R, Peña JA (2004) Genetic polymorphism and linkage disequilibrium of the HLA-DP region in Basques from Navarre (Spain).
Tissue Antigens, 64: 264-275
Pontes ML, Peña JA, Alfonso-Sánchez MA, Abrantes D, Lima G, Pereira MJ, Fernández-Fernández I, Castro A, Pinheiro MF, de Pancorbo MM (2004) Y chromosome STRs in the North of Portugal.
International Congress Series 1261: 350-352
Lima G, Peña JA, Alfonso-Sánchez MA, Pontes ML, Abrantes D, Pereira MJ, Fernández-Fernández I, Castro A, Pinheiro MF, de Pancorbo MM (2004) Analysis of the HVI and HVII regions of mitochondrial DNA in 100 individuals from North of Portugal.
International Congress Series 1261: 366-368
Vidales MC, Zubillaga P, Zubillaga I, Alfonso-Sánchez MA (2004) Allele and haplotype frequencies for HLA-class II (DQA1 and DQB1) loci in patients with celiac disease from Spain.
Human Immunology, 65: 352-358
Pérez-Miranda A, Alfonso-Sánchez M, Peña JA, Calderón R (2003) HLA-DQA1 polymorphism in autochthonous Basques from Navarre (Spain): Genetic position within European and Mediterranean scopes.
Tissue Antigens, 61:465-474
Calderón R, Carrión M, Pérez-Miranda A, Peña JA, Dugoujon JM, Crouau-Roy B (2003) Allele variation of DYS19 and Y-alu insertion (yap) polymorphisms in Basques. An insight into the peopling of Europe and Mediterranean space.
Human Biology, 75: 117-127
Peña JA, Alfonso-Sánchez MA, García-Obregón S, Pérez-Miranda A (2002) Persistencia de actividad lactasa en población residente en el País Vasco.
Antropo, 3:51-60 http://www.didac.ehu.es/antropo/
Peña JA, Alfonso-Sánchez MA, García-Obregón S, Pérez-Miranda A (2002) Aislamiento por distancia en poblaciones europeas sobre la base de polimorfismos genéticos séricos.
Antropo, 2:31-39 http://www.didac.ehu.es/antropo/
Peña JA, Calderón R, Pérez-Miranda A, Vidales C, Dugoujon JM, Carrión M and Crouau-Roy B (2002) Microsatellite DNA markers from HLA region (D6S105, D6S265 and TNFA) in autochthonous basques from Northern Navarre (Spain).
Annals of Human Biology, 29:176-191
Calderón R, Perez-Miranda A, Peña JA, Vidales C, Aresti U, Dugoujon JM (2000) The genetic position of the autochthonous subpopulation of Northern Navarre (Spain) in relation to the other Basque subpopulations. A study based on GM and KM immunoglobulin allotypes.
Human Biology, 72: 619-640
Dipierri JE, Alfaro E, Peña JA, Constans J, Dugoujon JM (2000) GM, KM immunoglobulin allotypes and other serum genetic markers (HP, GC, PI and TF) among South American populations living at different altitudes (Jujuy Province, Argentina): Admixture estimates.
Human Biology, 72:305-319
Martinez-Labarga C, Rickards O, Scacchi R, Corbo RM, Biondi G, Peña JA, Varas de Vieira C, Guevara A, Mesa MS and de Stefano GF (1999) Genetic population structure of two African-american communities of Esmeraldas (Ecuador).
American Journal of Physical Anthropology, 109:159-174
Calderón R, Vidales C,Peña JA, Perez-Miranda A and Dugoujon JM (1998) Immunoglobulin allotypes (GM and KM) in Basques from Spain: Approach to the origin of the Basque population.
Human Biology, 70:667-698
Papiha SS, Calderón R, Sertedaki A,Peña JA, Zhong Y and Chakraborty R (1998) Study of three hypervariable DNA loci (D1S7; D7S22 and D12S11) in three European populations.
Annals of Human Biology, 25(1):29-41
Mastana SS, Calderon R, Peña JA, Reddy PH, Papiha SS (1998) Anthropology of the Apolipoprotein e (Apo e) gene: Low frequency of Apo e4 allele in basques and in tribal (Baiga) populations of India.
Annals of Human Biology, 25:137-143
García Fernández E, Arrieta A, Riñón M, Maruri N, Arranz MC, Peña JA, García Masdevall MD (1997) Genetic polymorphisms of HLA class I and class II system in the Basque population.
Transplantation proceedings, 29(8):3707-3709
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