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
ACE Alu indel	SI000241H	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	ACE

Fst	Avg Het	# Populations Typed
0.134	0.43	196

Synonyms: rs4646994 ;
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

External Resources: GenBank sequence Record Kidd Lab Typing Protocol Record GenBank sequence Record Typing Information Record dbSNP ss# Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: Alu Insertion polymorphism involves 285 bp fragment containing an Alu repeat sequence in intron 16 of the ACE gene. There are multiple splice forms of this gene and the alu element consensi sequences range in size from 285 (AluSc) to 294bp (AluYb8).
Alleles:

Allele Name	Allele Symbol	Description
Alu Deletion	-	5'-atacagtcactttt " no 285 bp Alu" atgtggttt-3'
Alu Insertion	+	5'-atacagtcactttt "285 bp Alu" atgtggttt-3'

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.

- Batzer MA, Arcot SS, Phinney JW, Alegria-Hartman M, Kass DH, Milligan SM, Kimpton C, Gill P, Hochmeister M, Ioannou PA, Herrera RJ, Boudreau DA, Scheer WD, Keats BJB, Deininger PL, Stoneking M. "Genetic variation of recent Alu Insertions in human populations". J Mol Evol 42:22-29. (1996) Online citation.

- 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.

- 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)

- Majumder PP, Roy B, Banerjee S, Chakraborty M, Dey B, Mukherjee N, Roy M, Thakurta PG, Sil SK. "Human-specific insertion/deletion polymorphisms in Indian populations and their possible evolutionary implications ". Eur J Hum Genet 7:435-46. (1999) Online citation.

- 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.

- Novick GE, Novick CC, Yunis J, Yunis E, Antunez De Mayolo P, Scheer WD, Deininger PL, Stoneking M, York DS, Batzer MA, Herrera RJ. "Polymorphic Alu insertions and the Asian origin of Native American populations". Hum Biol 70:23-39. (1998) Online citation.

- Rieder MJ, Taylor SL, Clark AG, Nickerson DA "Sequence variation in the human angiotensin converting enzyme". Nat Genet. 22:59-62. (1999) Online citation.

- Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F. "An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels". J. Clin. Invest. 86:1343-6. (1990) Online citation.

- Rupert JL, Devine DV, Monsalve MV, Hochachka PW. "Angiotensin-converting enzyme (ACE) alleles in the Quechua, a high altitude South American native population". Ann. Hum. Biol. 26:375-80. (1999) Online citation.

- Rupert JL, Kidd KK, Norman LE, Monsalve MV, Hochachka PW, Devine DV. "Genetic polymorphisms in the renin-angiotensin system in high-altitude and low-altitude Native American populations". Ann Hum Genet 67:17-25. (2003) Online citation.

- Schunkert H. "Polymorphism of the angiotensin-converting enzyme gene and cardiovascular disease". J Mol Med. 75:867-75. (1997) 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.

- Tiret L, Rigat B, Visvikis S, Breda C, Corvol P, Cambien F, Soubrier F. "Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels". Am J Hum Genet 51:197-205. (1992) 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.

- Yoshida H, Mitarai T, Kawamura T, Kitajima T, Miyazaki Y, Nagasawa R, Kawaguchi Y, Kubo H, Ichikawa I, Sakai O. "Role of the deletion of polymorphism of the angiotensin converting enzyme gene in the progression and therapeutic responsiveness of IgA nephropathy". J Clin Invest. 96:2162-9. (1995) 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.

© 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