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

Locus Information

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
Adenosine deaminase	LO000293O	ADA	20	20q12-q13.11

Synonyms:
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM description GenBank sequence GenBank sequence GenBank sequence GenBank sequence GenBank sequence NCBI Genes and Disease UniGene PharmGKB Gene Information Genopedia (HuGE Navigator)
References: See References
Locus Description: The ADA locus encodes the adenosine deaminase (EC 3.5.4.4), a purine catabolic enzyme, which exists ubiquitously in mammalian tissue and catalyzes deamination of both adenosine and 2?-deoxyadenosine to inosine and 2?-deoxyinosine in vitro, respectively. Lack of erythrocyte ADA has been shown to be associated with inherited severe combined immunodeficiency (SCID), which was the first genetic disease treated by gene therapy (Bordignon et al., 1995 [PubMed ID: 7570000], Blaese et al., 1995 [PubMed ID: 7570001], Hoogerbrugge et al., 1996 [PubMed ID: 8867866], and Onodera et al., 1998 [PubMed ID: 9414266]). The nucleotide sequence of the human adenosine deaminase gene was determined by Wiginton et al. (1986) [PubMed ID: 3028473]. The ADA gene contains 12 exons separated by 11 introns. The exons range in size from 62 to 325 bp while the introns are 76-15,166 bp in size. It also contains 23 copies of Alu repetitive DNA (Wiginton et al. 1986) [PubMed ID: 3028473]. Petersen et al. (1987) [PubMed ID: 3560174] assigned the ADA locus to 20q13.11 by means of gene dosage effect in three year old patient with 20q deletion. Several RFLPs (such as ApaI (Gribbin et al., 1989) [PubMed ID: 2566983], MspI, BanII, PstI, BalI, and PvuII (Tzall et al., 1989) [PubMed ID: 2567118], BstXI (Hirschhorn et al., 1991) [PubMed ID: 1680289]) and SNPs (Brookes, et al., 2000) [PubMed ID: 10592273] have been identified.
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:

Site Name (Navigates to ALFRED description)	dbSNP rs# (Navigates to dbSNP reference page)	Chr-Position	# Populations typed
rs244073	rs244073	43254695	51
rs11700291	rs11700291	43257406	50
rs379863	rs379863	43260694	51
rs371927	rs371927	43263036	50
rs447833	rs447833	43263356	50
PstI	rs1799880	43264691	13
rs446125	rs446125	43267265	50
rs2299692	rs2299692	43271296	50
rs6031688	rs6031688	43271555	50
rs6031689	rs6031689	43271579	50
rs2057637	rs2057637	43273635	50
rs2299686	rs2299686	43275001	51
ADA			3

References:
- Blaese RM, Culver KW, Miller AD, Carter CS, Fleisher T, Clerici M, Shearer G, Chang L, Chiang Y, Tolstoshev P, et al. "T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years". Science 270:475-80. (1995) Online citation.

- Bordignon C, Notarangelo LD, Nobili N, Ferrari G, Casorati G, Panina P, Mazzolari E, Maggioni D, Rossi C, Servida P, et al. "Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients". Science 270:470-5. (1995) Online citation.

- Brookes AJ, Lehvaslaiho H, Siegfried M, Boehm JG, Yuan YP, Sarkar CM, Bork P, Ortigao F. "HGBASE: a database of SNPs and other variations in and around human genes". Nucleic Acids Res. 28:356-60. (2000) Online citation.

- Gribbin T, Chottiner E, Ginsburg D, Mitchell B. "Identification of an Apa I polymorphism within the human adenosine deaminase (ADA) gene". Nucleic Acids Res. 17:3626. (1989) Online citation.

- Hirschhorn R, Chakravarti V, Puck J, Douglas SD. "Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID)". Am. J. Hum. Genet. 49:878-85. (1991) Online citation.

- Hoogerbrugge PM, van Beusechem VW, Fischer A, Debree M, le Deist F, Perignon JL, Morgan G, Gaspar B, Fairbanks LD, Skeoch CH, Moseley A, Harvey M, Levinsky RJ, Valerio D. "Bone marrow gene transfer in three patients with adenosine deaminase deficiency". Gene Ther. 3:179-83. (1996) Online citation.

- Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR. "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data.". Am. J. Hum. Genet. 57:523-538. (1995) Online citation.

- Onodera M, Ariga T, Kawamura N, Kobayashi I, Ohtsu M, Yamada M, Tame A, Furuta H, Okano M, Matsumoto S, Kotani H, McGarrity GJ, Blaese RM, Sakiyama Y. "Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency". Blood 91:30-6. (1998) Online citation.

- Petersen MB, Tranebjaerg L, Tommerup N, Nygaard P, Edwards H. "New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q". J. Med. Genet. 24:93-6. (1987) Online citation.

- Tzall S, Ellenbogen A, Eng F, Hirschhorn R. "Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus". Am. J. Hum. Genet. 44:864-75. (1989) Online citation.

- Wiginton DA, Kaplan DJ, States JC, Akeson AL, Perme CM, Bilyk IJ, Vaughn AJ, Lattier DL, Hutton JJ. "Complete sequence and structure of the gene for human adenosine deaminase". Biochemistry 25:8234-44. (1986) 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