- Arrieta MI, Martinez B, Millan JM, Gil A, Monros E, Nunez T, Telez M, Martinez F. "Study of a trimeric tandem repeat locus (SBMA) in the Basque population: comparison with other populations". Gene Geogr. 11:61-72. (1997)

- Brown RJ, Rowold D, Tahir M, Barna C, Duncan G, Herrer RJ. "Distribution of the HLA-DQA1 and polymarker alleles in the Basque population of Spain". Forensic Sci. Int. 108:145-51. (2000)

- Fernandez-Fernandez I, Castro A, Bujan M, Cuevas N, Garcia-Orad A, de Pancorbo MM. "Population frequency distribution of HumF13A01, HumFXIIIB, and HumLIPOL loci in the Basque Country (Northern Spain).". J Forensic Sci. 45:1083-6. (2000)

- Levine MH. "The Basques". Natural History, NY 76:44-51. (1967)

Sample Name: Basque

Sample UID: SA000363M

Sample Description:The population sample consists of 100 healthy unrelated individuals from the Basque Country (northern Spain). Blood samples were taken with the help of mobile blood-donor units in different villages and cities. Geographic origin of donors was not taken into consideration because this sample is intended to represent the current population residing in the Basque Country.

Number of Chromosomes: 200

Relation to Other Samples:

References:
- Alonso S, Fernandez-Fernandez I, Castro A, De Pancorbo MM. "Genetic characterization of APOB and D17S5 AFLP loci in a sample from the Basque Country (northern Spain)". Hum. Biol. 70:491-505. (1998) Online citation.

Sample Name: Basque

Sample UID: SA000883T

Sample Description:This sample consists of unrelated Basque autochthonous donors. Individuals were considered autochthonous if the eight surnames and birthplace of their grandparents were of Basque origin.

Number of Chromosomes: 416

Relation to Other Samples:

References:
- Garcia O, Martin P, Budowle B, Uriarte J, Albarran C, Alonso A. "Basque Country autochthonous population data on 7 short tandem repeat loci". Int J Legal Med 111:162-164. (1998) Online citation.

Sample Name: Gipuzkoa Basques

Sample UID: SA000615M

Sample Description:This sample was collected from unrelated individuals from the Goiherri Valley in the Gipuzkoa province of Spain. This region is considered Basque Country. These individuals are considered of Basque autochthonous orgin because four grandparents were born in the Gipuzkoa Valley.

Number of Chromosomes: 206

Relation to Other Samples:

References:
- Antunez-de-Mayolo G, Antunez-de-Mayolo A, Antunez-de-Mayolo P, Papiha SS, Hammer M, Yunis JJ, Yunis EJ, Damodaran C, de Pancorbo MM, Caeiro JL, Puzyrev VP, Herrera RJ. "Phylogenetics of worldwide human populations as determined by polymorphic Alu insertions". Electrophoresis 23:3346-3356. (2002) Online citation.

- de Pancorbo MM, Lopez-Martinez M, Martinez-Bouzas C, Castro A, Fernandez-Fernandez I, Antunez de Mayolo G, Antunez de Mayolo A, Antunez de Mayolo P, Rowold DJ, Herrera RJ. "The Basques according to polymorphic Alu insertions". Hum Genet 109:224-233. (2001) Online citation.

Sample Name: Basque

Sample UID: SA000042G

Sample Description:Collected by J. Bertranpetit and P. Moral. Unrelated individuals of rural origin living in the Guipuzcoa province of the Basque country in Spain. This region borders the Bay of Biscay and encompasses the Western Foothills of the Pyrenee Mountains.

Number of Chromosomes: 224

Relation to Other Samples:

References:
- Comas D, Calafell F, Benchemsi N, Helal A, Lefranc G, Stoneking M, Batzer MA, Bertranpetit J, Sajantila A. "Alu insertion polymorphisms in NW Africa and the Iberian Peninsula: evidence for a strong genetic boundary through the Gibraltar Straits". Hum Genet 107:312-9. (2000) Online citation.

- Comas D, Mateu E, Calafell F, Perez-Lezaun A, Bosch E, Martinez-Arias R, Bertranpetit J. "HLA class I and class II DNA typing and the origin of Basques and Catalans.". Tissue Antigens 51:30-40. (1998) Online citation.

- Comas D, Mateu E, Calafell F, Perez-Lezaun A, Bosch E, Martinez-Arias R, Bertranpetit J. "HLA evidence for the lack of genetic heterogeneity in Basques". Annals of Human Genetics 62:123-132. (1998) Online citation.

- Kenneth K. Kidd et al. "Data unpublished".

- Martinez-Arias R, Comas D, Mateu E, Bertranpetit J. "Glucocerebrosidase pseudogene variation and Gaucher disease recognizing pseudogene tracts in GBA alleles.". Human Mutation (2001) No URL link out.

- Mateu E, Calafell F, Bonne-Tamir B, Kidd JR, Casals T, Kidd KK, Bertranpetit J. "Allele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene". Human Heredity 49:15-20. (1999) Online citation.

- Mateu E, Calafell F, Lao O, Bonne-Tamir B, Kidd JR, Pakstis A, Kidd KK, Bertranpetit J. "Worldwide genetic analysis of the CFTR region". Am. J. Hum. Genet. 68:103-117. (2001) Online citation.

- Perez-Lauzon A, Calafell F, Clarimon J, Bosch E, Mateu E, Gusmao L, Amorim A, Benchemsi N, Bertranpetit J. "Report on allele frequency data on 13 short tandem repeats in a stratified population sample of the Iberian Peninsula and Northern Africa using the AmpFLSTR Profiler Plus, AmpFLSTR Cofiler and AmpFLSTR Green I PCR amplification kits". Internation Journal of Legal Medicine 113:208-214. (2000) Online citation.

- Perez-Lezaun A, Calafell F, Mateu E, Comas D, Bertranpetit J. "Allele frequencies for 20 microsatellite loci in a worldwide population survey". Human Heredity 47:189-196. (1997) Online citation.

- Perez-Lezaun A, Calafell F, Mateu E, Comas D, Ruiz-Pacheco R, Bertranpetit J. "Microsatellite variation and the differentiation of modern humans". Human Genetics 99:1-7. (1996) Online citation.

- Perez-Lezaun A, Calafell F, Seielstad M, Mateu E, Comas D, Bosch E, Bertranpetit J. "Population genetics of Y chromosome short tandem repeats in humans". Journal of Molecular Evolution 45:265-270. (1997) Online citation.

- Tishkoff SA, Dietzsch E, Speed W, Pakstis AJ, Cheung K, Kidd JR, Bonne-Tamir B, Santachiara-Benerecetti AS, Moral P, Watson E, Krings M, Paabo S, Risch N, Jenkins T, Kidd KK. "Global patterns of linkage disequilibrium at the CD4 locus and modern human origins". Science 271:1380-7. (1996) Online citation.

- Tishkoff SA, Dietzsch E, Speed W, Pakstis AJ, Cheung K, Kidd JR, Bonne-Tamir B, Santachiara-Benerecetti AS, Moral P, Watson E, Krings M, Paabo S, Risch N, Jenkins T, Kidd KK. "Global patterns of linkage disequilibrium at the CD4 locus and modern human origins". Science 271:1380-7. (1996) Online citation.

Sample Name: Basque

Sample UID: SA002562P

Sample Description:This sample consists of controls recruited from a rural and mountainous area in northern Navarre(Spain) and were of Basque origin. The sample includes 81 men and 84 women of average age 26.

Number of Chromosomes: 330

Relation to Other Samples:

References:
- Parsons MJ, Mata I, Beperet M, Iribarren-Iriso F, Arroyo B, Sainz R, Arranz MJ, Kerwin R "A dopamine D2 receptor gene-related polymorphism is associated with schizophrenia in a Spanish population isolate". Psychiatr Genet. 17:159-63. (2007) Online citation.

Sample Name: Basque

Sample UID: SA000805N

Sample Description:This sample consists of unrelated Basques living in Boise, Idaho, USA. All four grandparents of each subject were of Basque origin. Boise, Idaho is the U.S. center for Basque culture.

Number of Chromosomes: 104

Relation to Other Samples:

References:
- Graham JB, Kunkel GR, Egilmez NK, Wallmark A, Fowlkes DM, Lord ST. "The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups ". Am J Hum Genet 49:537-44. (1991) Online citation.

Sample Name: Arratia Basques

Sample UID: SA000614L

Sample Description:This sample was collected from unrelated individuals from the Arratia Valley in the Bizkaia province of Spain. This region is considered Basque Country. These individuals are considered of Basque autochthonous orgin because four grandparents were born in the Arratia Valley.

Number of Chromosomes: 126

Relation to Other Samples:

References:
- Antunez-de-Mayolo G, Antunez-de-Mayolo A, Antunez-de-Mayolo P, Papiha SS, Hammer M, Yunis JJ, Yunis EJ, Damodaran C, de Pancorbo MM, Caeiro JL, Puzyrev VP, Herrera RJ. "Phylogenetics of worldwide human populations as determined by polymorphic Alu insertions". Electrophoresis 23:3346-3356. (2002) Online citation.

- de Pancorbo MM, Lopez-Martinez M, Martinez-Bouzas C, Castro A, Fernandez-Fernandez I, Antunez de Mayolo G, Antunez de Mayolo A, Antunez de Mayolo P, Rowold DJ, Herrera RJ. "The Basques according to polymorphic Alu insertions". Hum Genet 109:224-233. (2001) Online citation.

Sample Name: Basques, HGDP-CEPH

Sample UID: SA001504K

Sample Description:This sample from France is part of the Human Genome Diversity Cell Line Panel collected by the Human Genome Diversity Project (HGDP) and the Foundation Jean Dausset (CEPH). This sample consists of unrelated individuals and was collected with proper informed consent.

Number of Chromosomes: 48

Relation to Other Samples:

References:
- Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW. "Genetic structure of human populations". Science 298:2381-2385. (2002) Online citation.

Sample Name: Basques

Sample UID: SA001789Z

Sample Description:This sample consists of unrelated healthy Basque autochthonous donors native of the Spanish Basque province of Vizcaya. Basque surnames and birthplaces of individuals and ancestors (recorded back to the third generation) were the criteria employed to define local autochthony.

Number of Chromosomes: 146

Relation to Other Samples:

References:
- Perez-Miranda AM, Alfonso-Sanchez MA, Kalantar A, Pena JA, Pancorbo MM, Herrera RJ. "Allelic frequencies of 13 STR loci in autochthonous Basques from the province of Vizcaya (Spain)". Forensic Sci Int. 152:259-262. (2005) Online citation.

Sample Name: Basques

Sample UID: SA001867W

Sample Description:This sample consists of unrelated Basque individuals from Bilbao, Spain.

Number of Chromosomes: 178

Relation to Other Samples:

References:
- Libert F, Cochaux P, Beckman G, Samson M, Aksenova M, Cao A, Czeizel A, Claustres M, de la Rua C, Ferrari M, Ferrec C, Glover G, Grinde B, Guran S, Kucinskas V, Lavinha J, Mercier B, Ogur G, Peltonen L, Rosatelli C, Schwartz M, Spitsyn V, Timar L, Beckman L, Parmentier M, Vassart G "The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe". Hum Mol Genet. 7:399-406.. (1998) Online citation.

Sample Name: French Basques

Sample UID: SA003062L

Sample Description:This sample consists of Basque from the Southern France region. The Basque origin was determined by the site of birth of the four grandparents of the subjects. The age of the study group ranged from 1 month to 90years. The study was approved by the Human Subjects Ethics Committee of the Medical Centers in Bayonne, France and in Tel Hashomer, Israel.

Number of Chromosomes: 296

Relation to Other Samples:

References:
- Bauduer F, Zivelin A, Ducout L, Shpringer E, Seligsohn U. "The prevalence of factor V G1691A but not of prothrombin G20210A and methylenetetrahydrofolate reductase C677T is remarkably low in French Basques". J Thromb Haemost. 2:361-2. (2004) Online citation.

Sample Name: Basque

Sample UID: SA003026L

Sample Description:This sample consists of Basque individuals from Northern Spain (San Sebastian region). The DNA of the samples were obtained from Dr. David Comas, Unitat de Biologia Evolutiva ,Universitat Pompeu Fabra, Doctor Aiguader 80, Barcelona.

Number of Chromosomes: 200

Relation to Other Samples:

References:
- Donnelly MP, Paschou P, Grigorenko3 E, Gurwitz D, Mehdi SQ, Kajuna SLB, Barta C, Kungulilo S, Karoma NJ, Lu R-B, Zhukova OB, Kim JJ,Comas D, Siniscalco M, New M, Li P, Li H, Manolopoulos VG, Speed WC, Rajeevan H, Pakstis AJ, Kidd JR, Kidd KK. "The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans. ". Am. J of Human Genetics 86:161-71. (2010) Online citation.

Sample Name: Basques

Sample UID: SA003105J

Sample Description:This sample consists of subjects from Basque Country.

Number of Chromosomes: 94

Relation to Other Samples:

References:
- Falchi A, Barsotelli M, Giovannoni L, Varesi L, Vona G "Prevalance of MTHFR gene polymorphisms among Meditarenean populations: a possible genetic selection from Malaria?". 554-556. (2006)

Sample Name: French Basques

Sample UID: SA003436Q

Sample Description:This sample consists of Basques from Iparralde(the part of the BAsque country lying in France). Informed consent was obtained from all donors.

Number of Chromosomes: 170

Relation to Other Samples: Superset of SA001504K

References:
- Garagnani P, Laayouni H, González-Neira A, Sikora M, Luiselli D, Bertranpetit J, Calafell F. "Isolated populations as treasure troves in genetic epidemiology: the case of the Basques". Eur J Hum Genet. 17:1490-4. (2009) Online citation.

Sample Name: Basques

Sample UID: SA002460M

Sample Description:This sample consists of Basques from France.

Number of Chromosomes: 222

Relation to Other Samples:

References:
- Lucotte G, Mercier G. "Distribution of the CCR5 gene 32-bp deletion in Europe". J Acquir Immune Defic Syndr Hum Retrovirol. 19:174-7. (1998) Online citation.

Sample Name: Basque

Sample UID: SA003240J

Sample Description:This sample consists of Basque individuals from Spain.

Note: This sample information is not fully curated. For additional information about the sample, consult the publications under "References". The sample was entered as part of data submission by Eisenberg DA.

Number of Chromosomes: 286

Relation to Other Samples:

References:
- Eisenberg DA, Kuzawa, CW, Hayes MG "Worldwide allele frequencies of the human apolipoprotein E (APOE) gene: climate, local adaptations and evolutionary history". American Journal of Physical Anthropology 143:100-11. (2010) Online citation.

- Mastana SS, Calderon R, Pena J, Reddy PH, Papiha SS. "Anthropology of the apoplipoprotein E (apo E) gene: low frequency of apo E4 allele in Basques and in tribal (Baiga) populations of India". Ann Hum Biol. 25:137-43. (1998) Online citation.

Sample Name: Basque

Sample UID: SA002515N

Sample Description:This sample consists of unrelated individuals from Spain.

Number of Chromosomes: 58

Relation to Other Samples:

References:
- Martinson JJ, Chapman NH, Rees DC, Liu YT, Clegg JB. "Global distribution of the CCR5 gene 32-basepair deletion". Nat Genet 16:100-103. (1997) Online citation.

Sample Name: Basques

Sample UID: SA003272O

Sample Description:This sample consists of Basques 1 from Guipuzcoa Province - North of iberian Peninsula.

Note: This sample information is not fully curated. For additional information about the sample, consult the publications under "References". The sample was entered as part of data submission by Eisenberg DA.

Number of Chromosomes: 222

Relation to Other Samples:

References:
- Eisenberg DA, Kuzawa, CW, Hayes MG "Worldwide allele frequencies of the human apolipoprotein E (APOE) gene: climate, local adaptations and evolutionary history". American Journal of Physical Anthropology 143:100-11. (2010) Online citation.

- Valveny N, Esteban E, Kandil M, Moral P. "APO E polymorphism in Spanish and Moroccan populations". Clin Genet. 51:354-6. (1997) Online citation.

Sample Name: Basque

Sample UID: SA004431M

Sample Description:This sample unrelated healthy Basque autochthonous donors. The sample was collected with informed consent

Number of Chromosomes: 210

Relation to Other Samples:

References:
- García O, Soto A, Yurrebaso I. "Allele frequencies and other forensic parameters of the HID-Ion AmpliSeq™ Identity Panel markers in Basques using the Ion Torrent PGM™ platform.". Forensic Sci Int Genet. 28:e8-e10. (2017) Online citation.

Sample Name: Basques

Sample UID: SA004563S

Sample Description:This sample consists of autochthonous Basques individuals from the Basque Country. Criteria for autochthony included local ancestry for at least three generations and additionally, a minimum of eight Basque surnames. samples were collected under informed consent, following procedures in accordance with the ethical standards of the Helsinki Declaration. The study was approved with the favorable ethical report from the Faculty of Pharmacy of the University of the Basque Country, signed at 26th September 2008. In addition, the study met with the approval of the Health Department of the Government of the Chartered Community of Navarre and the Scientific and Ethical Committee of the Basque Biobank forResearch-OEHUN.

Number of Chromosomes: 200

Relation to Other Samples:

References:
- Cardoso S, Sevillano R, Gamarra D, Santurtún A, Martinez-Jarreta B, de Pancorbo MM "Population genetic data of 38 insertion-deletion markers in six populations of the northern fringe of the Iberian Peninsula". Forensic Sci Int Genet. 27:175-179. (2017) Online citation.

Sample Name: Basque

Sample UID: SA004546T

Sample Description:This smaple consists of individuals from Basque Country, Spain. This sample was typed as part of the collaborative exercise by the participating laboratory as part of the International Society for Forensic Genetics (GHEP-ISFG) working commission on autosomal indels for human identification. This study was approved by vote at the GHEP-ISFG general meeting and complies with the ethical principles of the 2000 Helsinki Declaration of the World Medical Association. The samples used in this collaborative exercise were anonymised DNA extracts previously obtained from healthy unrelated individuals who consented to participate in this study under strictly confidential conditions.

Number of Chromosomes: 310

Relation to Other Samples:

References:
- Pereira R, Alves C, Aler M, Amorim A, ArAvalo C, Betancor E, Braganholi D, Bravo ML, Brito P, Builes JJ, Burgos G, Carvalho EF, Castillo A, Catanesi CI, Cicarelli RMB, Coufalova P, Dario P, D'Amato ME, Davison S, Ferragut J, Fondevila M, Furfuro S, Garcia O, Gaviria A, Gomes I, Gonzalez E, Gonzalez-Linan A, Gross TE, Hernanndez A, Huang Q, Jimenez S, Jobim LF, Lopez-Parra AM, Marino M, Marques S, Marti­nez-Cortes G, Masciovecchio V, Parra D, Penacino G, Pinheiro MF, Porto M, Posada Y, Restrepo C, Ribeiro T, Rubio L, Sala A, Santurtun A, Soli­s LS, Souto L, Streitemberger E, Torres A, Vilela-Lamego C, Yunis JJ, Yurrebaso I, Gusmao L. "A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations". Forensic Sci Int Genet. 32:18-25. (2017) Online citation.

Sample Name: Northern Navarre

Sample UID: SA004564T

Sample Description:This sample consists of Autochthonous Basque individuals from Northern Navarre. Criteria for autochthony included local ancestry for at least three generations and additionally, a minimum of eight Basque surnames. samples were collected under informed consent, following procedures in accordance with the ethical standards of the Helsinki Declaration. The study was approved with the favorable ethical report from the Faculty of Pharmacy of the University of the Basque Country, signed at 26th September 2008. In addition, the study met with the approval of the Health Department of the Government of the Chartered Community of Navarre and the Scientific and Ethical Committee of the Basque Biobank forResearch-OEHUN.

Number of Chromosomes: 204

Relation to Other Samples:

References:

© 2019 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan