The Origin of the G736A Mutation of Parkin Gene in Peque (Northwest of Antioquia)
DOI:
https://doi.org/10.22380/2539472X.891Keywords:
Peque, PARK2 gene, Isonimy, Parkinson’s deseaseAbstract
In a large family from Peque population (Antioquia), there have been found some individuals affected with juvenile Parkinson’s disease, due to the G736A mutation located in exon 6 of the PARK2 gene. As a result of the tri-ethnic composition of our mixed populations and that this mutation was reported in Spain, our goal was to find the origin of this mutation. We typified molecular markers on the Y chromosome in 132 unrelated individuals from the general population and 31 of the family; in addition the records of surnames in two periods were also analyzed. The mutation was exclusively found in families where only one haplotype was European (haplogroup P) named Valle, and one native haplotype (Q1a3a) named Salas
G736A, the mutation carriers. The mutation G736A, joined by European founders (P) named Valle, increased its frequency due to a founder effect, internal growth and inbreeding in the family but not in the total population and it expanded in a Native American context (Q1a3a) named Salas.
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References
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Muñoz, Esteban, Eduardo S. Tolosa, Pau Pastor, M. J. Martí, Francesc Valldeoriola, Jaume Campdelacreu y Rafael Oliva. 2002. “Relative High Frequency of the c.255 del A Parkin Gene Mutation in Spanish Patients with Autosomal Recessive Parkinsonism”. Journal of Neurology, Neurosurgery and Psychiatry 73 (5): 582-584.
Nebel, Almut, Dvora Filon, Deborah A. Weiss, Michael E. Weale, Marina Faerman, Ariella Oppenheim y Mark G. Thomas. 2000. “High-resolution Y Chromosome Haplotypes of Israeli and Palestinian Arabs Reveal Geographic Substructure and Substantial Overlap with Haplotypes of Jews”. Human Genetics 107 (6): 630-641.
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Pineda-Trujillo, Nicolás, María Apergi, Sonia Moreno, William Arias, Suzanne Lesage, Alejandro Franco, Diego Sepúlveda-Falla, David Cano, Ómar Buriticá, David Pineda, Carlos Santiago Uribe, Justo García de Yebenes, Andrew J. Lees, Alexis Brice, Gabriel Bedoya, Francisco Lopera y Andrés Ruiz-Linares. 2006. “A Genetic Cluster of Early Onset Parkinson’s Disease in a Colombian Population”. American Journal of Medical Genetic Part B (Neuropsychiatric Genetics) 141B (8): 885-889.
Pineda-Trujillo, Nicolás, Luis G. Carvajal-Carmona, Ómar Buriticá, Sonia Moreno, Carlos Uribe, David Pineda, María Toro, Francisco García, William Arias, Gabriel Bedoya, Francisco Lopera y Andrés Ruiz-Linares. 2001. “A Novel Cys212Tyr Founder Mutation in Parkin and Allelic Heterogeneity of Juvenile Parkinsonism in a Population from North West Colombia”. Neuroscience Letters 298 (2): 87-90.
Pinto-Cisternas, Juan, Cristina Castelli y L. Pineda. 1985. “Use of Surnames in the Study of Population Structure”. Human Biology 57 (3): 353-363.
Rodríguez-Larralde, Álvaro e Italo Barrai. 1997. “Isonymy Structure of Sucre and Tachira, Two Venezuelan States”. Human Biology 69 (5): 715-731.
Rodríguez-Larralde, Álvaro, Italo Barrai, Claudia Nesti, Elisabetta Mamolini y Chiara Scapoli. 1998. “Isonymy and Isolation by Distance in Germany”. Human Biology 70 (6): 1041-1056.
Rodríguez Larralde, Álvaro y J. Casique. 1993. “Genetic and Demographic Structure of the State of Aragua, Venezuela, Estimated through the Surnames”. Acta Cientifica de Venezuela 44 (4): 225-233.
Rojas, Winston, María Victoria Parra, Omer Campo, María Antonieta Caro, Juan Guillermo Lopera, William Arias, Constanza Duque, Andrés Naranjo, Jharley García, Candelaria Vergara, Jaime Lopera, Érick Hernández, Ana Valencia, Yuri Caicedo, Mauricio Cuartas, Javier Gutiérrez, Sergio López, Andrés Ruiz-Linares y Gabriel Bedoya. 2010. “Genetic Make Up and Structure of Colombian Populations by Means of Uniparental and Biparental dna Markers”. American Journal of
Physical Anthropology 143 (1): 13-20.
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Semino, Ornella, Chiara Magri, Giorgia Benuzzi, Alice A. Lin, Nadia AlZahery, Vincenza Battaglia, Liliana Maccioni, Costas Triantaphyllidis, Peidong Shen, Peter J. Oefner, Lev A. Zhivotovsky, Roy King, Antonio Torroni, L. Luca Cavalli-Sforza, Peter A. Underhill y A. Silvana Santachiara-Benerecetti. 2004. “Origin, Diffusion, and Differentiation of Y-chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area”. American Journal of Human Genetics 74 (5): 1023-1034.
Thomas, Marck, Neil Bradman y Helen Flinn. 1999. “High Throughput Analysis of 10 Microsatellite and 11 Diallelic Polymorphisms on the Human Y-Chromosome”. Human Genetics 105: 577-581.
Bedoya, Gabriel, Patricia Montoya, Jenny García, Iván Soto, Stephane Bourgeois, Luis Carvajal Carmona, Damián Labuda, Víctor Álvarez, Jorge Ospina, Philip W. Hedrick y Andrés Ruiz-Linares. 2006. “Admixture Dynamics in Hispanics: A Shift in the Nuclear Genetic Ancestry of a South American Population Isolate”. Proceedings of the National Academy of Sciences of the United States of America 103 (19): 7234-7239.
Bortolini, María Catira, Francisco M. Salzano, Mark G. Thomas, Steven Stuart, Selja P. Nasanen, Claiton H. D. Bau, Mara H. Hutz, Zulay Layrisse, María L. Petzl-Erler, Luiza T. Tsuneto, Kim Hill, Ana M. Hurtado, Dinorah Castro-de-Guerra, María M. Torres, Helena Groot, Roman Michalski, Pagbajabyn Nymadawa, Gabriel Bedoya, Neil Bradman, Damián Labuda y Andrés Ruiz-Linares. 2003. “Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas”. American Journal of Human Genetics 73 (3): 524-539.
Cervecería Unión. 1941. “Monografias de Antioquia, Peque”. Recuperado el 10 de noviembre de 2009, http://biblioteca-virtual-antioquia.udea.edu.co/pdf/21/21_363929263.pdf
Colombia, Sisbén. 2006. “Sistema de Identificación de Potenciales Beneficiarios de Programas Sociales”. Recuperado el 10 de octubre de 2009, http://www.sisben.gov.co/Inicio.aspx
Crow, James F. y Arthur P. Mange. 1965. “Measurement of Inbreeding from the Frequency of Marriages between Persons of the Same Surname”. Eugenics Quarterly 12 (4): 199-203.
Demarchi, Darío A. y Sonia E. Colantonio. 2000. “Apellidos como alelos de un sistema polimórfico. Ensayo en una población aislada”. En Tendencias actuales de investigación en la antropología física española, editado por Luis Caro Dobón, Humildad Rodríguez Otero, Eduardo Sánchez Compadre y Belén López Martínez, 265-271. León: Universidad de León.
Flores, Carlos, Nicole Maca-Meyer, Ana M. González, Peter J. Oefner, Peidong Shen, José A. Pérez, Antonio Rojas, José M. Larruga y Peter A. Underhill. 2004. “Reduced Genetic Structure of the Iberian Peninsula Revealed by Y-Chromosome Analysis: Implications for Population Demography”. European Journal of Human Genetics 12: 855-863.
Hurles, Matthew E., Reiner Veitia, Eduardo Arroyo, Manuel Armenteros, Jaume Bertranpetit, Anna Pérez-Lezaun, Elena Bosch, María Shlumukova, Anne Cambon-Thomsen, Ken McElreavey, Adolfo López de Munain, Arne Röhl, Ian J. Wilson, Lalji Singh, Arpita Pandya, Fabricio R. Santos, Chris Tyler-Smithy y Mark A. Jobling. 1999. “Recent Malemediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal dna Polymorphism”. American Journal of Human Genetics 65 (5): 1437-1448.
Karafet, Tatiana M., Fernando L. Méndez, Mónica B. Meilerman, Peter A. Underhill, Stephen L. Zeguray y Michael F. Hammer. 2008. “New Binary Polymorphisms Reshape and Increase Resolution of the Human Y Chromosomal Haplogroup Tree”. Genome Research 18(5): 830-838.
Kayser, Manfred, Alessandra Caglia, Daniel Corach, Neale Fretwell, Christian Gehrig, Giorgio Graziosi, Frank Heidorn, Stefan Martin Herrmann, Bergen Herzog, Monika Hidding, Katsuya Honda, Mark A. Jobling, Michael Krawczak, Kein Leim, Susanne Meuser, Eckhard Meyer, Wolfgang Oesterreich, Arpita Pandya, Walther M. Parson, Gustavo A. Penacino, Ana Pérez-Lezaun, Andrea Piccinini, Mechthild K. Prinz, Cornelia Schmitt, Peter. M. Schneider, Reinhard Szibor, Johanna Teifel-Greding, Gottfried M. Weichhold, Peter de Knijff y Lutz Roewer. 1997. “Evaluation of Y-Chromosomal STRs: A Multicenter Study”. International Journal of Legal Medicine 110: 125-133.
Kayser, Manfred, Michael Krawczak, Laurent Excoffier, Patrick Dieltjes, Daniel Corach, Vincente Pascali, Christian Gehrig, Luigi F. Bernini, Jørgen Jespersen, Egbert Bakker, Lutz Roewer y Peter de Knijff. 2001. “An Extensive Analysis of Y-Chromosomal Microsatellite Haplotypes in Globally Dispersed Human Populations”. The American Journal of Human Genetics 68 (4): 990-1018.
Morton, Newton E., ed. 1973. “Kinship and Population Structure”. En Genetic Structure of Population, editado por Newton E. Morton, 66-71. Honolulu: University of Hawaii Press.
Muñoz, Esteban, Eduardo S. Tolosa, Pau Pastor, M. J. Martí, Francesc Valldeoriola, Jaume Campdelacreu y Rafael Oliva. 2002. “Relative High Frequency of the c.255 del A Parkin Gene Mutation in Spanish Patients with Autosomal Recessive Parkinsonism”. Journal of Neurology, Neurosurgery and Psychiatry 73 (5): 582-584.
Nebel, Almut, Dvora Filon, Deborah A. Weiss, Michael E. Weale, Marina Faerman, Ariella Oppenheim y Mark G. Thomas. 2000. “High-resolution Y Chromosome Haplotypes of Israeli and Palestinian Arabs Reveal Geographic Substructure and Substantial Overlap with Haplotypes of Jews”. Human Genetics 107 (6): 630-641.
“Peque, la verdadera capital de la montaña”. Recuperado el 10 de noviembre de 2009, http://www.peque-antioquia.gov.co/index.shtml
Pineda-Santís, Hermes, Mauricio Arcos-Burgos y María Luisa Bravo-Aguilar. 1999. “Aproximación a la estructura genética de la población de Granada, Antioquia (Colombia), a través de isonimia”. Actualidades Biológicas 21 (70): 29-36.
Pineda-Trujillo, Nicolás, María Apergi, Sonia Moreno, William Arias, Suzanne Lesage, Alejandro Franco, Diego Sepúlveda-Falla, David Cano, Ómar Buriticá, David Pineda, Carlos Santiago Uribe, Justo García de Yebenes, Andrew J. Lees, Alexis Brice, Gabriel Bedoya, Francisco Lopera y Andrés Ruiz-Linares. 2006. “A Genetic Cluster of Early Onset Parkinson’s Disease in a Colombian Population”. American Journal of Medical Genetic Part B (Neuropsychiatric Genetics) 141B (8): 885-889.
Pineda-Trujillo, Nicolás, Luis G. Carvajal-Carmona, Ómar Buriticá, Sonia Moreno, Carlos Uribe, David Pineda, María Toro, Francisco García, William Arias, Gabriel Bedoya, Francisco Lopera y Andrés Ruiz-Linares. 2001. “A Novel Cys212Tyr Founder Mutation in Parkin and Allelic Heterogeneity of Juvenile Parkinsonism in a Population from North West Colombia”. Neuroscience Letters 298 (2): 87-90.
Pinto-Cisternas, Juan, Cristina Castelli y L. Pineda. 1985. “Use of Surnames in the Study of Population Structure”. Human Biology 57 (3): 353-363.
Rodríguez-Larralde, Álvaro e Italo Barrai. 1997. “Isonymy Structure of Sucre and Tachira, Two Venezuelan States”. Human Biology 69 (5): 715-731.
Rodríguez-Larralde, Álvaro, Italo Barrai, Claudia Nesti, Elisabetta Mamolini y Chiara Scapoli. 1998. “Isonymy and Isolation by Distance in Germany”. Human Biology 70 (6): 1041-1056.
Rodríguez Larralde, Álvaro y J. Casique. 1993. “Genetic and Demographic Structure of the State of Aragua, Venezuela, Estimated through the Surnames”. Acta Cientifica de Venezuela 44 (4): 225-233.
Rojas, Winston, María Victoria Parra, Omer Campo, María Antonieta Caro, Juan Guillermo Lopera, William Arias, Constanza Duque, Andrés Naranjo, Jharley García, Candelaria Vergara, Jaime Lopera, Érick Hernández, Ana Valencia, Yuri Caicedo, Mauricio Cuartas, Javier Gutiérrez, Sergio López, Andrés Ruiz-Linares y Gabriel Bedoya. 2010. “Genetic Make Up and Structure of Colombian Populations by Means of Uniparental and Biparental dna Markers”. American Journal of
Physical Anthropology 143 (1): 13-20.
Rosser, Zoë H., Tatiana Zerjal, Matthew E. Hurles, Maarja Adojaan, Dragan Alavantic, Antonio Amorim, William Amos, Manuel Armenteros, Eduardo Arroyo, Guido Barbujani, Gunhild Beckman, LarsBeckman, JaumeBertranpetit, Elena Bosch, Daniel G. Bradley, GauteBrede, Gillian Cooper, Helena B. S. M. Côrte-Real, Peter de Knijff, Ronny Decorte, Yuri E. Dubrova, Oleg Evgrafov, Anja Gilissen, Sanja Glisic, Mukaddes Gölge, Emmeline W. Hill, Anna Jeziorowska, Luba Kalaydjieva, Manfred Kayser, Toomas Kivisild, Sergey A. Kravchenko, Astrida Krumina, Vaidutis Kučinskas, João Lavinha, Ludmila A. Livshits, Patrizia Malaspina, María Syrrou, Ken McElreavey, Thomas A. Meitinger, Aavo-Valdur Mikelsaar, R. John Mitchell, Khedoudja Nafa, Jayne Nicholson, Søren Nørby, Arpita Pandya, Jüri Parik, Philippos C. Patsalis, Luisa Pereira, Borut Peterlin, Gerli Pielberg, María João Prata, Carlo Previderé, Lutz Roewer, Siiri Rootsi, D. C. Rubinsztein, Juliette Saillard, Fabricio R. Santos, Gheorghe Stefanescu, Bryan C. Sykes, Aslihan Tolun, Richard Villems, Chris Tyler-Smithy y Mark A. Jobling. 2000. “Y-Chromosomal Diversity in Europe is Clinal and Influenced Primarily by Geography, rather than by Language”. American Journal of Human Genetics 67 (6): 1526-1543.
Ruiz-Linares, Andrés, Daniel Ortiz-Barrientos, Mauricio Figueroa, Natalia Mesa, Juan G. Múnera, Gabriel Bedoya, Iván D. Vélez, Luis F. García, Anna Pérez-Lezaun, Jaume Bertranpetit, Marcus W. Feldman y David B. Goldstein. 1999. “Microsatellites Provide Evidence for Y Chromosome Diversity among the Founders of the New World”. Proceedings of the National Academy of Sciences USA 96 (11): 6312-6317.
Semino, Ornella, Chiara Magri, Giorgia Benuzzi, Alice A. Lin, Nadia AlZahery, Vincenza Battaglia, Liliana Maccioni, Costas Triantaphyllidis, Peidong Shen, Peter J. Oefner, Lev A. Zhivotovsky, Roy King, Antonio Torroni, L. Luca Cavalli-Sforza, Peter A. Underhill y A. Silvana Santachiara-Benerecetti. 2004. “Origin, Diffusion, and Differentiation of Y-chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area”. American Journal of Human Genetics 74 (5): 1023-1034.
Thomas, Marck, Neil Bradman y Helen Flinn. 1999. “High Throughput Analysis of 10 Microsatellite and 11 Diallelic Polymorphisms on the Human Y-Chromosome”. Human Genetics 105: 577-581.
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Published
2012-06-30
How to Cite
Arias P., W. H., Rojas, W. ., Moreno, . S. ., Lopera, . F. ., Ruiz-Linares, A. ., & Bedoya, . G. . (2012). The Origin of the G736A Mutation of Parkin Gene in Peque (Northwest of Antioquia). Revista Colombiana De Antropología, 48(1), 81–95. https://doi.org/10.22380/2539472X.891
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Anthropology and Genetic Diversity in Colombia
