Sample Name: Catalonian

Sample UID: SA000850N

Sample Description:This sample consists of healthy unrelated individuals living in Catalonia (Northeast Spain).

Number of Chromosomes: 566

Relation to Other Samples:

References:
- Gene M, Carracedo A, Huguet E, Perez-Perez A, Moreno P. "Population genetics of the D12S391, CSF1P0 and TPOX loci in Catalonia (Northeast Spain)". Int J legal Med 111:52-54. (1998) Online citation.

Sample Name: Catalans

Sample UID: SA002461N

Sample Description:This sample consists of French Catalans who were selected by ethnicity and family history.

Number of Chromosomes: 204

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: Catalans(cat)

Sample UID: SA004197V

Sample Description:this sample consists of Catalans.

Number of Chromosomes: 132

Relation to Other Samples:

References:
- Pimenoff VN, Laval G, Comas D, Palo JU, Gut I, Cann H, Excoffier L, Sajantila A. "Similarity in recombination rate and linkage disequilibrium at CYP2C and CYP2D cytochrome P450 gene regions among Europeans indicates signs of selection and no advantage of using tagSNPs in population isolates". Pharmacogenet Genomics. 22:846-857. (2012) Online citation.

Sample Name: Catalonia

Sample UID: SA000771P

Sample Description:This sample was collected from healthy unrelated individuals (of both sexes) from Catalonia.

Number of Chromosomes: 616

Relation to Other Samples:

References:
- Gene M, Huguet E, Sanchez-Garcia C, Moreno P, Corbella J, Mezquita J. "Study of the 3'-ApoB minisatellite performed by PCR in the population of Catalonia (northeast Spain)". Hum Hered. 45:70-4. . (1995) Online citation.

Sample Name: Barcelona

Sample UID: SA002748V

Sample Description:This sample consists of individuals from Barcelona, Spain who were part of multicenter case-conrol study conducted from 2002-2005 in 12 centres from 8 European countries. This study is called ARCAGE (Alcohol-related Cancers and genetic susceptibility in Europe). All participants were interviewed with a structured questionnaire.

Number of Chromosomes: 160

Relation to Other Samples:

References:
- Hashibe M, McKay JD, Curado MP, Oliveira JC, Koifman S, Koifman R, Zaridze D, Shangina O, Wünsch-Filho V, Eluf-Neto J, Levi JE, Matos E, Lagiou P, Lagiou A, Benhamou S et.al. "Multiple ADH genes are associated with upper aerodigestive cancers". Nat Genet. 40:707-9. (2008) Online citation.

Sample Name: Catalans

Sample UID: SA003025K

Sample Description:This sample is the subset of SA000088Q. The DNA of the individuals were obtained from Dr.David Comas, Unitat de Biologia Evolutiva ,Universitat Pompeu Fabra Doctor Aiguader 80, Barcelona.

Number of Chromosomes: 100

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: Catalans

Sample UID: SA002465R

Sample Description:This sample consists of Spanish Catalans who were selected by ethnicity and family history.

Number of Chromosomes: 196

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: Catalans, unrelated

Sample UID: SA000088Q

Sample Description:Collected by J. Bertranpetit and P. Moral. Unrelated individuals from rural villages of North Girona in Catalonia, Spain.

Number of Chromosomes: 176

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.

- 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.

Sample Name: Catalonia

Sample UID: SA002516O

Sample Description:This sample consists of Catalonians from Spain. This sample was collected as part of anthropological surveys of investigation of non-HIV related medical conditions.

Number of Chromosomes: 98

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: Catalonia

Sample UID: SA003348S

Sample Description:This sample consists of Spanish catalonians.

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: 452

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.

- Gené M, Moreno P, Ezquerra M, Prat A, Huguet E, Adroer R, Oliva R. "Low apolipoprotein E epsilon4 allele frequency in the population of Catalonia (Spain) determined by PCR-RFLP and Laser fluorescent sequencer". Eur J Epidemiol. 13:841-3.. (1997) Online citation.

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© 2012 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