Genetic panel for the Bengal that combines four molecular tests: blood group determination (CMAH alleles), pyruvate kinase deficiency (PKLR), progressive retinal atrophy b-PRA (LGT) and progressive retinal atrophy rdAc-PRA (CEP290). The four conditions affect different systems (haematological, ocular) and the panel allows matings to be planned while avoiding carrier combinations. The panel is complementary to - not a substitute for - the ophthalmological examination and the blood count.

Applicable breed: Bengal. PKLR: mean frequency 9.35% in the breeds carrying the allele, ranging between 0.078% and 12.97% in the Bengal (Grahn 2012). rdAc-PRA: allele frequency ~22% in the United Kingdom Bengal (Menotti-Raymond 2008). b-PRA: limited data. Blood group B: high frequencies in some breeds, variable in the Bengal (limited data).

- Blood group: relevant for neonatal isoerythrolysis and transfusions\n- PK: haemolytic anaemia of variable onset and severity\n- b-PRA and rdAc-PRA: painless progressive blindness

Each test in the panel was developed independently. The feline blood group was associated with variants of the CMAH gene (Bighignoli 2007; Gandolfi 2016 for the allele associated with type AB). PK deficiency of the Abyssinian/Somali was associated with PKLR (Grahn 2012) and is present in the Bengal. b-PRA was localised to the LGT gene (also known as BLIX) specific to the Bengal. rdAc-PRA was associated with CEP290 in breeds with Siamese ancestry (Menotti-Raymond 2008).

- Genotype the breeding animals before mating (blood group, PK, b-PRA, rdAc-PRA)\n- Blood group: identify type B queens before mating to prevent neonatal isoerythrolysis\n- For PK, b-PRA and rdAc-PRA (recessive): do not mate two carriers - 25% affected homozygotes; carrier×clear is safe for the offspring intended for breeding if tested\n- In juvenile haemolytic anaemia, include PK in the differential diagnosis\n- In progressive retinal atrophy, identify the form by age of onset and genetic test

The blood group is confirmed by serological testing (crossmatch) in doubtful cases; neonatal isoerythrolysis is the critical emergency in type B queens with A/AB kittens. PK is diagnosed by blood count with reticulocytes. PRA is confirmed by fundus examination and genetic testing; differentiate b-PRA from rdAc-PRA by age of onset. There is no treatment for the PRAs.

1. Bighignoli B et al. 2007, CMAH y grupo sanguíneo AB felino (PMID 17553163)
2. Gandolfi B et al. 2016, nueva variante CMAH y tipo AB en Ragdoll (PMID 27171395)
3. Grahn RA et al. 2012, mutación de PK en múltiples razas de gatos (PMID 23110753)
4. Menotti-Raymond M et al. 2008, CEP290 y rdAc-PRA felina
5. OMIA:000119 grupo sanguíneo felino; OMIA:000844 PK felina