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Burmese pack: genetic blood group, hypotrichosis, MPS6, PKD and pd-PRA

General · Cat

The Burmese pack groups into a single analysis the genetic tests of greatest interest for Burmese breeding: genetic determination of the A/b blood group, hypotrichosis and short life expectancy, mucopolysaccharidosis type VI, polycystic kidney disease (PKD) and progressive retinal atrophy PRA-AIPL1 (relevant only with Persian ancestry). Each component has its own inheritance and management: recessive for most, dominant for PKD. It allows comprehensive screening of the breeding animal in a single sample and planning matings with a complete view of litter risks.
Inheritance patternMixed: FOXN1 (hypotrichosis), ARSB (MPS VI) and AIPL1 (PRA-AIPL1, not documented in the Burmese) autosomal recessive; PKD1 autosomal dominant; CMAH codominant.
Gene / MutationCMAH (A/b blood group); FOXN1 c.1030_1033del p.(L344Gfs) (OMIA001949, hypotrichosis with thymic aplasia); ARSB — in the Burmese a high frequency of the D520N allele (c.1558G>A) has been described, without association with disease, whereas the L476P allele (c.1427T>C), causing MPS VI, is characteristic of lines of Siamese origin (OMIA000666); PKD1 c.10063C>A (PKD); AIPL1 c.577C>T p.(R193*) (OMIA001222) — PRA-AIPL1 is documented in Persian breeds and NOT in the Burmese, so it should only be interpreted if Persian ancestry exists.
PenetranceEach component has its own: high in MPS VI homozygotes and in hypotrichosis; variable in PKD1 (progressive cysts with heterogeneous severity); complete for the blood group genotype; slow and variable progression in PRA-AIPL1. See the individual datasheet for each component.
Sample typesangre con EDTA 1mL
Codejhbd
Turnaround time15 days
Price80,79 €
BreedsBirmano

Incidence

PKD has had a relevant historical presence in breeds of the Persian group and appears in Burmese at much lower frequencies than in Persians. The b group has an appreciable presence in the Burmese compared with the general feline population. The ARSB D520N allele is frequent in the Burmese but is not associated with disease; severe MPS VI (L476P) is characteristic of Siamese lines. Hypotrichosis is rare within the breed and PRA-AIPL1 is not documented in the Burmese. Current frequencies depend on the country and the line: limited data for several of the components.

Clinical signs

- Not a single disease: screening pack for five conditions
- Blood group: risk of neonatal isoerythrolysis (anaemia and death of kittens in the first days)
- Hypotrichosis: kittens with a very sparse coat, poor development and short life
- MPS VI: dwarfism, corneal opacity, joint stiffness and skeletal deformities (only with the L476P allele of Siamese origin)
- PKD: progressive renal cysts with renal failure in adulthood
- PRA-AIPL1 (only with Persian ancestry): progressive retinal degeneration towards blindness

History

The Burmese, as a closed and popular breed, has accumulated over the decades several well-characterized genetic diseases: PKD shared with the Persian environment, MPS VI from Siamese lines and the high frequency in the Burmese of the ARSB D520N allele (without association with disease), familial hypotrichosis and the breed's particular sensitivity in the A-b blood group system. Laboratories incorporated individual tests as the corresponding mutations were identified, from the 1990s to the 2010s. Grouping into packs responds to the modern practice of responsible breeding: screening all breeding animals systematically instead of testing disease by disease. The Burmese pack thus condenses the current standard of genetic control for the breed.

Breeder management

- Test every Burmese breeding animal with the complete pack before the first mating, in a single sample collection.
- For the recessive components (MPS VI if the allele is L476P, hypotrichosis and PRA-AIPL1): do not mate two carriers together; a carrier can be mated with a clear animal. In the Burmese, the ARSB D520N allele is not associated with disease and does not justify selection; PRA-AIPL1 is only considered with Persian ancestry (limited data).
- For PKD (dominant): positive animals should not be bred; a positive transmits the allele to 50% of the litter.
- For the blood group: if the queen is b and the male is A or AB, plan neonatal management for the first 24 hours.
- Record the five results of each breeding animal in the pedigree and update them in each mating plan.

Specialist notes

Interpret each result separately and with its specific datasheet: the pack is a screening tool, not a single diagnosis. The interpretation of ARSB in the Burmese must take into account that D520N is a frequent allele of benign significance and that L476P belongs to Siamese lines; PRA-AIPL1 is not documented in the Burmese. Complement with annual renal ultrasound in adults (PKD may begin at a variable age and ultrasound provides grading), periodic ophthalmoscopy and serological blood group typing for confirmation if transfusions are planned. With combined results, the compatibility analysis of the pair must be done by a genetic advisor or the veterinarian responsible for the programme.

References

1. Lyons LA 2015, DNA mutations of the cat: the good, the bad and the ugly (revisión). PMID: 25701860
2. Bighignoli B et al. 2007, mutaciones de CMAH asociadas al grupo AB felino. BMC Genet. PMID: 17553163
3. Abitbol M et al. 2015, deleción de FOXN1 asociada a hipotricosis congénita y corta esperanza de vida en gatos Birmanos. PLoS One. PMID: 25781316
4. Lyons LA et al. 2016, nuevos modelos de ceguera en AIPL1 (solo razas persas, NO Birmano). BMC Genomics. PMID: 27030474
5. Lyons LA et al. 2004, mutación de la enfermedad renal poliquística felina en PKD1. J Am Soc Nephrol. PMID: 15466259
6. Lyons LA et al. 2016, mucopolisacaridosis VI en gatos: aclaración sobre el diagnóstico genético (D520N frecuente en el Birmano sin enfermedad). BMC Vet Res. PMID: 27370326

Tests included in this pack (5)

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Price: 80,79 € · Turnaround time: 15 days

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