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Gene Protein Function Impact
ABO Transferase A   (alpha 1-3-N-acetyl-galactosaminyl-transferase)

Transferase B   (alpha 1-3-galactosyl-transferase)

Specific glycosyl-transferring enzymes.

Produce the Histo-blood group ABO blood system types.

Convert the H antigen to the carbohydrate antigens A or B respectively.

O individuals lack such activity

ABO incompatible transfusion may result in death of patients.
ABO:
Link direct to topic in GenCards

  ABO BLOOD GROUP:


Analyses:

Research only. The ABO genotyping status are investigated utilizing sequencing and a PCR-RFLP method.

Reference on methods: 
Grunnet et al., 1994 and Yamamoto F, Clausen H, White T, Marken J, Hakomori S. Molecular genetic basis of the histo-blood group ABO system.
Nature 1990 May 17;345(6272):229-33. 

More information about the ABO Blood group system is available at the Blood Group Antigen Gene Mutation Database

Publications:
Bennett EP, Steffensen R, Clausen H, Weghuis DO, van Kessel AG.
Biochem  Genomic cloning of the human histo-blood group ABO locus.
Biophys Res Commun 1995 Jan 5;206(1):318-25. 

Grunnet N, Steffensen R, Bennett EP, Clausen H.
Evaluation of histo-blood group ABO genotyping in a Danish population: frequency of a novel O allele defined as O2.
Vox Sang 1994;67(2):210-5. 


 

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