Human Gene Project
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  • Human Genes A-D
    • ABO (Example Page)
    • ACTN3
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    • BDNF
    • BHLHE41
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  • Human Genes F-T
    • FOXP2
    • GBA
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    • LEP
    • MAOA
    • OCA2
    • SLC6A3
    • SLC6A4
    • TAS2R38
    • TET1

ABO Gene

"It will have blood; they say, blood will have blood." 

~Macbeth

PictureMade by Mysid, based on http://ghr.nlm.nih.gov/chromosome=9 (National Library of Medicine).
ABO is located on Chromosome 9.

"Chromosome 9 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 145 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4 and 4.5 percent of the total DNA in cells."
(Wikipedia)


This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into
the A or B antigen. Other minor alleles have been found for this gene. 


Source: Genecards http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABO
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"Like eye color, blood type is passed genetically from your parents. Whether your blood group is type A, B, AB or O is based on the blood types of your mother and father."

Source: Red Cross: Learning about Blood types
http://www.redcrossblood.org/learn-about-blood/blood-types)

This gene encodes a protein related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 in the gene which corresponds to a region near the N-terminus of the protein. This results in a frameshift and translation of an almost entirely different protein. This mutation results in a protein unable to modify oligosaccharides which end in fructose linked to galactose. This sugar combination is termed the H antigen.

The A and B alleles of the ABO gene express enzymes with glycosyltransferase activities that differ, adding either N-acetyl galactosamine or galactose to the H antigen, converting it into the A or B antigen respectively. Individuals who are heterozygous for this gene express both proteins and so make both A and B antigens. Their blood group is AB. Remarkably, the difference between the A and B glycosyltransferase enzymes is only four amino acids. Other minor alleles have been found for this gene.

Source: Wikipedia (for example only)
http://en.wikipedia.org/wiki/ABO_(gene)
PDB rendering based on 1lz0
PDB rendering based on 1k1f. (Wikipedia)

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Paul Andersen teaches science at Bozeman High School in Bozeman, MT. He is the 2011 Montana Teacher of the Year.

In this video entitled "Blood Types", Paul Andersen explains the importance of blood types in blood transfusions. He starts with a brief discussion of blood antigens and antibodies. He describes how the ABO differs from the Rh blood type. He shows you how to solve simple genetic problems using Punnett squares. He then talks about the percentage distribution of the different types and the problems that may result during pregnancy.
Source: YouTube

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