Test Detail

Bengal pack: genetic blood group, PK and two forms of PRA

Genética general · Cat

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.

Inheritance pattern	Mixed: CMAH (type AB codominant with respect to B; A dominant); PKLR - autosomal recessive; b-PRA (LGT) - autosomal recessive; rdAc-PRA (CEP290) - autosomal recessive.
Gene / Mutation	CMAH (blood group, c.364C>T allele associated with AB); PKLR c.693+304G>A (PK); LGT (Bengal b-PRA); CEP290 c.3647insA (rdAc-PRA).
Penetrance	Blood group: the genotype predicts the group with high reliability. PK: high penetrance in homozygotes with variable severity. b-PRA and rdAc-PRA: high penetrance in homozygotes, progressive course towards blindness.
Code	bzam
Turnaround time	15 days
Price	80,79 €

Incidence

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).

Breeder management

- 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

Specialist notes

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.

References

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

Tests included in this pack (4)

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