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Molecular characterization of blood type A, B, and C (AB) in domestic cats and a CMAH genotyping scheme

Alexandra Kehl1, Kevin Heimberger1, Ines Langbein-Detsch1

  • 1Laboklin, Bad Kissingen, Germany.

Plos One
|September 21, 2018
PubMed

Insights

Feline blood types A, B, and C are determined by variants in the Cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH) gene. Identifying these CMAH variants enables molecular screening for safe blood transfusions in cats.

Area of Science:

  • Genetics
  • Veterinary Medicine
  • Molecular Biology

Background:

  • The feline AB blood group system comprises types A, B, and C, with varying frequencies across breeds and regions.
  • Blood type mismatches in cats can lead to severe hemolytic transfusion reactions and neonatal isoerythrolysis.
  • The enzyme Cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH) is crucial for synthesizing blood group antigens.

Purpose of the Study:

  • To characterize feline blood types A, B, and C by examining the Cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH) coding regions.
  • To identify genetic variants within the CMAH gene associated with different feline blood types.
  • To establish a molecular screening method for feline blood typing to ensure transfusion compatibility.

Main Methods:

  • Sequencing of feline CMAH coding regions in phenotypically typed cats.
  • Identification and analysis of novel and known CMAH variants.
  • Protein modeling using PROVEAN to assess the functional impact of identified variants.
  • Genotyping using single nucleotide variants (SNVs) and blood typing for phenotype-genotype correlation.

Main Results:

  • Of 421 cats, 60% were type A, 35% type B, and 5% type C.
  • Thirteen new CMAH variants were identified among 70 sequenced cats, alongside 16 previously reported variants.
  • Specific CMAH variants (c.268T>A, c.179G>T, c.1322delT, c.933delA) were strongly associated with blood type B in various cat populations.
  • A variant (c.364C>T) was linked to blood type C in Ragdoll cats.
  • Complete phenotype-genotype concordance was observed for analyzed SNVs and blood types.

Conclusions:

  • Three key CMAH variants (c.179G>T, c.268T>A, c.1322delT) are primarily responsible for defective N-glycolylneuraminic acid synthesis, leading to blood type B in domestic cats.
  • The variant c.364C>T is associated with blood type C in Ragdoll cats.
  • These identified CMAH variants provide a basis for a molecular screening scheme for clinical diagnostics to ensure feline blood type compatibility.

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