ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the Yale Center for Medical Informatics.
00ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)LO000384PABO99q34.1-q34.2
Synonyms: ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase ; transferase B, alpha 1-3-galactosyltransferase) ; ABO blood type ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GenBank sequence   Blood Group Antigen Gene Mutation Database mutation information   PharmGKB Gene Information   
References: See References
Locus Description: ABO encodes glycosyltransferases, which transfer specific sugar residues to a precursor substance (the H antigen) to produce the A and B antigens. There are three major alleles at the ABO locus: alleles A, B, and O. The A and B alleles encode A transferase (EC 2.4.1.40) and B transferase (EC 2.4.1.37), respectively. The O allele does not produce an active enzyme (Daniels, 1995 and Watkins, 1980 [PubMed ID: 6156588]). The ABO locus spans over 18 kb and consists of seven exons. The exons range in size from 28 to 688 bp. The two largest exons (6 and 7) encode 77% of the full coding region and 91% of the catalytically active soluble transferase protein (Yamamoto et al., 1995) [PubMed ID: 7772867]. Bennett et al. (1995) [PubMed ID: 7598760] localized the ABO locus to chromosome 9q34 by using fluorescent in situ hybridization. Extensive sequence variation in the non-coding region has been reported: minisatellite 43-bp repeats in the 5? UTR (Irshaid et al., 1999) [PubMed ID: 10555816], twenty one SNPs in intron 6 (Suzuki et al., 1997) [PubMed ID: 9099833], and one SNP (1096G>A substitution) in the 3? UTR (Olsson and Chester, 1995) [PubMed ID: 8578738]. Please see review article by Yip (2002) [PubMed ID: 12014997].
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-PositionStatus# Populations
typed
rs7466519rs7466519   13613100250
rs8176749rs8176749   13613118894
rs8176746rs8176746   13613132294
rs8176732rs8176732   13613230350
rs2073824rs2073824   13613263351
rs8176720rs8176720   13613287350
rs512770rs512770   13613350694
rs8176704rs8176704   13613555250
rs574347rs574347   13613565951
rs2073828rs2073828   13613714050
rs8176694rs8176694   13613764650
rs657152rs657152   13613926594
rs500498rs500498   13614864750
rs505922rs505922   13614922994
rs630014rs630014   13614972294
rs568203rs568203   13615144594
rs13298002rs13298002   13615512750
rs500428rs500428   13615534394
ABO   1
ABO   4

References:
- Bennett EP, Steffensen R, Clausen H, Weghuis DO, van Kessel AG. "Genomic cloning of the human histo-blood group ABO locus". Biochem. Biophys. Res. Commun. 206:318-25. (1995) Online citation.

- Daniels G. "Human Blood Groups". Oxford: Blackwell Science (1995)

- Irshaid NM, Chester MA, Olsson ML. "Allele-related variation in minisatellite repeats involved in the transcription of the blood group ABO gene". Transfus. Med. 9:219-26. (1999) Online citation.

- Olsson ML, Chester MA. "A rapid and simple ABO genotype screening method using a novel B/O2 versus A/O2 discriminating nucleotide substitution at the ABO locus". Vox Sang. 69:242-7. (1995) Online citation.

- Suzuki K, Iwata M, Tsuji H, Takagi T, Tamura A, Ishimoto G, Ito S, Matsui K, Miyazaki T. "A de novo recombination in the ABO blood group gene and evidence for the occurence of recombination products". Hum. Genet. 99:454-61. (1997) Online citation.

- Watkins WM. "Biochemistry and Genetics of the ABO, Lewis, and P blood group systems". Adv. Hum. Genet. 10:1-136. (1980) Online citation.

- Yamamoto F, McNeill PD, Hakomori S. "Genomic organization of human histo-blood group ABO genes". Glycobiology 5:51-8. (1995) Online citation.

- Yip SP. "Sequence variation at the human ABO locus". Ann. Hum. Genet. 66:1-27. (2002) Online citation.

Top

© 2019 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