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

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
intron 2 TaqI D SI000139NDopamine Receptor D2DRD2
FstAvg Het# Populations Typed
0.2320.28862
Synonyms: rs1800498 ;
Frequency on Map:    
Frequency Display Formats:     
Estimated Heterozygosity: 
Frequency Download:   
External Resources: HGVbase Site Definition Record   Typing Protocol Record  GenBank sequence Record  GenBank sequence Record  GenBank sequence Record  GenBank sequence Record  GenBank sequence Record  dbSNP ss# Record  PharmGKB Variant Information Record  
References: See References
Polymorphism Description:  A T/C SNP in intron 2 that alters a TaqI restriction site. The SNP is located between the MboI RSP and the (GT)n STRP: 160 bp downstream of the MboI SNP and 1.396 kb upstream of the STRP. With the protocol given, the PCR fragment is 300 bp which remains uncut by TaqI for the D1 allele (site absent) and is cut into fragments of 212 bp and 88 bp for the D2 allele (site present). The MboI site is also within this PCR amplicon.
Ancestral Allele:  Site Present
Ancestral Allele Determine by: Sequence on primate DNA
Alleles:
Allele NameAllele SymbolDescription
Taq Site AbsentT5'-aaaagagccttgggtt T T GA gactagggaacctggg-3'
TaqI Site PresentC5'-aaaagagccttgggtt T C GA gactagggaacctggg-3'

References:
- Chakrabarti CS, Roy M, Sengupta NK, Lalthantluanga R, Majumder PP. "Genetic relationships among some tribal groups inhabiting the north-eastern, eastern and sub-Himalayan regions of India". Ann Hum Genet 66:361-368. (2002) Online citation.

- Iyengar S, Seaman M, Deinard AS, Rosenbaum HC, Sirugo G, Castiglione CM, Kidd JR, Kidd KK. "Analyses of cross-species polymerase chain reaction products to infer the ancestral state of human polymorphisms". DNA Seq. 8:317-27. (1998) Online citation.

- Kidd KK, Pakstis AJ, Castiglione CM, Kidd JR, Speed WC, Goldman D, Knowler WC, Lu RB, Bonne-Tamir B. "DRD2 haplotypes containing the TaqI A1 allele: implications for alcoholism research". Alcohol. Clin. Exp. Res. 20:697-705. (1996) Online citation.

- Sawyer SL, Mukherjee N, Pakstis AJ, Feuk L, Kidd JR, Brookes AJ, Kidd KK. "Linkage disequilibrium patterns vary substantially among populations". Eur J Hum Genet 13:677-686. (2005) Online citation.

- Suarez BK, Parsian A, Hampe CL, Todd RD, Reich T, Cloninger CR. "Linkage disequilibria at the D2 dopamine receptor locus (DRD2) in alcoholics and controls". Genomics 19:12-20. (1994) Online citation.

© 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