Test Detail

DNA panel specific for the ragdoll that combines genetic blood group determination with screening for hypertrophic cardiomyopathy (MYBPC3 p.A31P and p.R820W variants), polycystic kidney disease (PKD) and progressive retinal atrophy type PRA-AIPL1 (relevant only with Persian ancestry). It covers the cardiac, renal and ocular systems. It is performed from a buccal swab or blood and identifies carrier, affected and predisposed animals. It is one of the essential panels in the breed's preventive control.

Carrier frequencies for p.R820W have been described as variable depending on country and breeding line, with no consolidated international figures (limited data). PKD is less frequent than in the Persian. PRA-AIPL1 is not documented in the ragdoll; it is only considered if there is Persian ancestry, and its data in the breed are limited.

- HCM: cardiac murmur, gallop rhythm, dyspnoea, syncope, aortic thromboembolism and sudden death\n- PKD: renal cysts progressing to chronic kidney failure\n- PRA-AIPL1 (only with Persian ancestry): progressive vision loss with night blindness and tapetal hyperreflectivity\n- Neonatal isoerythrolysis due to blood group incompatibility

Hypertrophic cardiomyopathy was recognised as familial in the ragdoll, and in 2007 the p.R820W variant of the MYBPC3 gene was identified as a major risk factor in the breed. Later studies have qualified its penetrance, which has changed the interpretation of results. Polycystic kidney disease reached the breed through its relationship with Persian lines, and identification of the PKD1 variant made it possible to share the test. The PRA-AIPL1 form, due to AIPL1 c.577C>T p.(Arg193*), was described in the Persian and related breeds; there are no data supporting its presence in the ragdoll, so it should only be interpreted if documented Persian ancestry exists. The AB blood group system was deciphered in 2007 with the CMAH gene.

- Avoid mating HCM carriers with each other and, where possible, do not breed carriers: unlike recessive diseases, a single copy increases the risk\n- Complement genetics with annual echocardiograms of breeding animals\n- Do not breed animals positive for PKD1\n- Regarding PRA-AIPL1: without documented Persian ancestry the result must be interpreted with caution; if it is included, carriers may be mated to clear animals and never two carriers with each other\n- Determine the blood group before mating to prevent neonatal isoerythrolysis

A negative genetic result does not rule out HCM: the ragdoll can develop the disease through other loci not yet identified, so echocardiographic screening remains essential. In PKD, ultrasound remains useful because the test only detects the known variant. PRA is confirmed by fundoscopy and electroretinogram; the AIPL1 variant should only be interpreted in animals with Persian ancestry.

1. Meurs KM et al. 2007, mutación de sustitución en MYBPC3 en la miocardiopatía hipertrófica del ragdoll. Genomics. PMID: 17521870
2. Bighignoli B et al. 2007, mutaciones de CMAH asociadas al grupo AB felino. BMC Genet. PMID: 17553163
3. Lyons LA et al. 2004, mutación de la enfermedad renal poliquística felina en PKD1. J Am Soc Nephrol. PMID: 15466259
4. Lyons LA et al. 2016, nuevos modelos de ceguera en AIPL1 (documentado solo en razas persas). BMC Genomics. PMID: 27030474
5. Lyons LA 2015, DNA mutations of the cat (revisión). PMID: 25701860