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

Name	ALFRED UID	Locus Name	Locus Symbol
A25 Alu insertion	SI000801J	Alu insertion A25	ALU-A25

Fst	Avg Het	# Populations Typed
0.126	0.174	71

Synonyms:
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

External Resources: GenBank sequence Record
References: See References
Polymorphism Description: This Alu insertion polymorphism is located on chromosome 8, ~500 kb downstream (centromeric) of MMP16, the closest identified gene. Sequence analysis showed that this Alu element is flanked by perfect direct repeats and a 3' oligo(dA)-rich tail. Also there is a 34 nucleotides deletion at the 5' end and has a single CpG mutation compared to the human specific consensus sequence.
AAGAAAATATTTC [ALU]AAGAAAATATTTC shows nucleotide sequence of the direct repeats flanking the A25 Alu element.
Alleles:

Allele Name	Allele Symbol	Description
Alu Deletion	-
Alu Insertion	+

References:
- Arcot SS, Fontius JJ, Deininger PL, Batzer MA. "Identification and analysis of a 'young' polymorphic Alu element". Biochim Biophys Acta 1263:99-102. (1995) Online citation.

- 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.

- Deininger PL, Sherry ST, Risch G, Donaldson C, Robichaux MB, Soodyall H, Jenkins T, Sheen F-m, Swergold G, Stoneking M, Batzer MA. "Interspersed repeat insertion polymorphisma for studies of human molecular anthropology. In Genomic diversity: Applications in human population genetics (ed. Papiha, Deka, and Chakraborty)". New York: Kluwer Academic/Plenum Publishers 201-212. (1999)

- Nasidze I, Risch GM, Robichaux M, Sherry ST, Batzer MA, Stoneking M. "Alu insertion polymorphisms and the genetic structure of human populations from the Caucasus". Eur J Hum Genet 9:267-72. (2001) Online citation.

- Stoneking M, Fontius JJ, Clifford SL, Soodyall H, Arcot SS, Saha N, Jenkins T, Tahir MA, Deininger PL, Batzer MA. "Alu insertion polymorphisms and human evolution: evidence for a larger population size in Africa ". Genome Res 7:1061-71. (1997) Online citation.

- Xiao FX, Yang JF, Cassiman JJ, Decorte R "Diversity at eight polymorphic Alu insertion loci in Chinese populations shows evidence for European admixture in an ethnic minority population from northwest China". Hum Biol 74:555-68. (2002) 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