ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Population Information

NameALFRED UIDPrimary LanguageLanguage Family
PortuguesePO000302F

Synonyms:
Geographic Location1:  42.25N, 9.5W; 37N, 6.25W  

Sites typed for this population: View List
Population Samples: See Sample Information
External Resources: 
References: See references
Population Description: Being curated
References:


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Central Portugese

Sample UID: SA003762S

Sample Description:This sample consists of unrelated individuals from Central Portugal. Informed consent was obtained.

Number of Chromosomes: 248

Relation to Other Samples:

References:
- Albuquerque D, Manco L, Loua KM, Arez AP, Trovoada Mde J, Relvas L, Millimono TS, Rath SL, Lopes D, Nogueira F, Varandas L, Alvarez M, Ribeiro ML. "SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples". Ann Hum Biol. 38:378-81. (2011) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Portugal

Sample UID: SA004208O

Sample Description:This sample consists of unrelated individuals from North of Portugal. This sample consists of 69 male and 58 females who were selected from the paternity tests for indel typing.

Number of Chromosomes: 254

Relation to Other Samples:

References:
- Carvalho A, Pinheiro MF. "Population data of 30 insertion/delection polymorphisms from a sample taken in the North of Portugal". Int J Legal Med. 127:65-7. (2013) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Madeira Archipelago

Sample UID: SA001105H

Sample Description:This sample consists of unrelated individuals from the Madeira Archipelago (Portugal).

Number of Chromosomes: 290

Relation to Other Samples:

References:
- Corte-Real F, Souto L, Anjos MJ, Carvalho M, Vieira DN, Carracedo A, Vide MC. "Population distribution of six PCR-amplified loci in Madeira Archipelago (Portugal)". Forensic Sci Int. 100:93-99. (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Portugese

Sample UID: SA003098U

Sample Description:This sample consists of Portugese blood donors in whom migraine was excluded.

Number of Chromosomes: 192

Relation to Other Samples:

References:
- Ferro A, Castro MJ, Lemos C, Santos M, Sousa A, Pereira-Monteiro J, Sequeiros J, Maciel P. "The C677T polymorphism in MTHFR is not associated with migraine in Portugal". Dis Markers. 25:107-13. (2008) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Portugal

Sample UID: SA002464Q

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

Number of Chromosomes: 248

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 Information:

Graph estimated heterozygosities for various sites

Sample Name: Northern Portugal

Sample UID: SA003354P

Sample Description:This sample consists of Portugese individuals.

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: 298

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.

- Seixas S, Trovoada MJ, Rocha J. "Haplotype analysis of the apolipoprotein E and apolipoprotein C1 loci in Portugal and São Tomé e Príncipe (Gulf of Guinea): linkage disequilibrium evidence that APOE*4 is the ancestral APOE allele ". Hum Biol. 71:1001-8.. (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: South Portugal

Sample UID: SA004209P

Sample Description:This sample consists of healthy unrelated caucasian individuals born in south Portugal.

Number of Chromosomes: 216

Relation to Other Samples:

References:
- da Silva CV, Matos S, Costa HA, Morais P, Dos Santos RM, Espinheira R, Santos JC, Amorim A "Genetic portrait of south Portugal population with InDel markers". Forensic Sci Int Genet. (Epub) (2013) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Northern Portugal

Sample UID: SA002223J

Sample Description:This sample consists of unrelated individuals from Northern Portugal.

Number of Chromosomes: 184

Relation to Other Samples:

References:
- Freitas T, Brehm A, Fernandes AT "Frequency of the CCR5-delta32 mutation in the Atlantic island populations of Madeira, the Azores, Cabo Verde, and São Tomé e Príncipe". Hum Biol. 78:697-703. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Portugal

Sample UID: SA003242L

Sample Description:This sample consists of Portugese from Lisbon,PORTUGAL.

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: 266

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.

- Haddy N, De Bacquer D, Chemaly MM, Maurice M, Ehnholm C, Evans A, Sans S, Do Carmo Martins M, De Backer G, Siest G, Visvikis S. "The importance of plasma apolipoprotein E concentration in addition to its common polymorphism on inter-individual variation in lipid levels: results from Apo Europe". Eur J Hum Genet. 10:841-50. (2002) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Northern Portugal

Sample UID: SA001664R

Sample Description:This sample consists of individuals from Northern Portugal.

Number of Chromosomes: 180

Relation to Other Samples:

References:
- Coelho M, Luiselli D, Bertorelle G, Lopes AI, Seixas S, Destro-Bisol G, Rocha J. "Microsatellite variation and evolution of human lactase persistence". Hum Genet. 117:329-339. (2005) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Northern Portugal

Sample UID: SA000425L

Sample Description:This sample was collected from unrelated individuals and mother-child pairs of European ancestry and living in northern Portugal.

Number of Chromosomes: 498

Relation to Other Samples:

References:
- Gusmao L, Prata MJ, Amorim A, Silva F, Bessa I. "Characterization of four short tandem repeat loci (THO1, VWA31/A, CD4, and TP53) in northern Portugal". Hum. Biol. 69:34-40. (1997) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: North Portugal

Sample UID: SA000893U

Sample Description:This sample consists of unrelated males living in the region north of river Douro (north Portugal). All the individuals as well as both their ancestors were living in the same region at least back to three generations.

Number of Chromosomes: 240

Relation to Other Samples:

References:
- Fernandes AT, Brehm A. "Population data of five STRs in three regions from Portugal". Forensic Sci Int 129:72-74. (2002) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Portuguese

Sample UID: SA001292O

Sample Description:This sample consists of unrelated healthy donors from Portuguese districts located North to Douro River, Portugal.

Number of Chromosomes: 1880

Relation to Other Samples:

References:
- Alves C, Gusmao L, Pereira L, Amorim A. "STR data (CD4, CSF1PO, F13A01, FES/FPS, MBPB, TH01, TPOX) from North Portugal". Forensic Sci Int. 123:76-77. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Northern Portugal

Sample UID: SA001353M

Sample Description:This sample consists of individuals from Northern Portugal, the region including Portuguese districts to the north of the Douro River.

Number of Chromosomes: 216

Relation to Other Samples:

References:
- Gusmao L, Sanchez-Diz P, Alves C, Lareu MV, Carracedo A, Amorim A. "Genetic diversity of nine STRs in two northwest Iberian populations: Galicia and northern Portugal". Int J Legal Med. 114:109-113. (2000) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Portuguese

Sample UID: SA001868X

Sample Description:This sample consists of unrelated individuals from Lisbon, Portugal.

Number of Chromosomes: 202

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 Information:

Graph estimated heterozygosities for various sites

Sample Name: Portugese

Sample UID: SA003443O

Sample Description:This sample consists of unrelated Portugese individuals born in the three regions of Continental Portugal, North(n=68), Centre(n=63) and South (n=62).

Number of Chromosomes: 386

Relation to Other Samples:

References:
- Pereira R, Fondevila M, Phillips C, Amorim A,Carracedo A, Gusmão L "Genetic characterization of 52 autosomal SNPs in the Portuguese population ". Forensic Science International: Genetics Supplement Series 1:358-360. (2008)


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Portugal

Sample UID: SA004004I

Sample Description:This sample consists of Portuguese from South Portugal.

Number of Chromosomes: 232

Relation to Other Samples:

References:
- Mercier G, Diéterlen F, Lucotte G. "Population distribution of the methionine allele at the PRNP codon 129 polymorphism in Europe and the Middle East". Hum Biol. 80:181-90. (2008) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Central Portugal

Sample UID: SA000894V

Sample Description:This sample consists of unrelated males living in the between river Douro and river Tagus (center of Portugal). All the individuals as well as both their ancestors were living in the same region at least back to three generations.

Number of Chromosomes: 254

Relation to Other Samples:

References:
- Fernandes AT, Brehm A. "Population data of five STRs in three regions from Portugal". Forensic Sci Int 129:72-74. (2002) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: South Portugal

Sample UID: SA000895W

Sample Description:This sample consists of unrelated males living in the region south of river Tagus (Alentejo and Algarve, south Portugal). All the individuals as well as both their ancestors were living in the same region at least back to three generations.

Number of Chromosomes: 302

Relation to Other Samples:

References:
- Fernandes AT, Brehm A. "Population data of five STRs in three regions from Portugal". Forensic Sci Int 129:72-74. (2002) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Northern Portugal

Sample UID: SA001272M

Sample Description:This sample consists of healthy unrelated individuals from the north of Portugal.

Number of Chromosomes: 400

Relation to Other Samples:

References:
- Pinheiro MF, Caine L, Pontes L, Abrantes D, Lima G, Pereira MJ, Rezende P "Allele frequencies of sixteen STRs in the population of Northern Portugal.". Forensic Sci Int. 148:221-3. (2005) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Portuguese

Sample UID: SA001812M

Sample Description:This sample consists of unrelated blood donors from mainland Portugal.

Number of Chromosomes: 60

Relation to Other Samples:

References:
- Branco CC, Palla R, Lino S, Pacheco PR, Cabral R, De Fez L, Peixoto BR, Mota-Vieira L. "Assessment of Azorean ancestry by Alu insertion polymorphisms". Am J Hum Biol. 18:223-226. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Portugese

Sample UID: SA003097T

Sample Description:This sample consists of Portugese samples that were randomly and blindly selected from the national program of phenylketonuria, congenital hypothyroidism and other metabolic disorder screening biobank (Guthrie blood spots). All the Guthrie samples collected from the districts of Viana do Castelo, Braga, Porto, Vila Real, Braganca, Aveiro) were used for the study. This sample was kindly provided by Dr. Laura Vilarinho.

Number of Chromosomes: 794

Relation to Other Samples:

References:
- Ferro A, Castro MJ, Lemos C, Santos M, Sousa A, Pereira-Monteiro J, Sequeiros J, Maciel P. "The C677T polymorphism in MTHFR is not associated with migraine in Portugal". Dis Markers. 25:107-13. (2008) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Portuguese

Sample UID: SA001021E

Sample Description:This sample consists of unrelated Caucasion individuals living in Lisbon, Portugal.

Number of Chromosomes: 306

Relation to Other Samples:

References:
- Santos SM, Budowle B, Smerick JB, Keys KM, Moretti TR "Portuguese population data on the six short tandem repeat loci--CSF1PO, TPOX, THO1, D3S1358, VWA and FGA". Forensic Sci Int 83:229-35. (1996) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Northern Portuguese

Sample UID: SA001217L

Sample Description:This sample consists of unrelated , healthy individuals from Portugal.

Number of Chromosomes: 500

Relation to Other Samples:

References:
- Abrantes D, Lima G, Caine L, Pontes L, Pinheiro F. "Allele frequencies of 15 loci using AmpFlSTR identifiler kit in a northern Portuguese population". J Forensic Sci. 49:842-4. (2004) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Central Portugal

Sample UID: SA002224K

Sample Description:This sample consists of healthy, unrelated individuals from Central Portugal.

Number of Chromosomes: 182

Relation to Other Samples:

References:
- Freitas T, Brehm A, Fernandes AT "Frequency of the CCR5-delta32 mutation in the Atlantic island populations of Madeira, the Azores, Cabo Verde, and São Tomé e Príncipe". Hum Biol. 78:697-703. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Portugal

Sample UID: SA004003H

Sample Description:This sample consists of Portuguese from North Portugal.

Number of Chromosomes: 328

Relation to Other Samples:

References:
- Mercier G, Diéterlen F, Lucotte G. "Population distribution of the methionine allele at the PRNP codon 129 polymorphism in Europe and the Middle East". Hum Biol. 80:181-90. (2008) Online citation.


1Geographic Coordinates represent two opposite corners of a rectangle encompassing the area where the population lives.This data is preliminary and changing.

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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