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MYBPC3-mutations in ragdolls and Maine coons in the British Isles
The two myosin-binding protein C (MYBPC3) mutations that affect ragdolls (R820W) and Maine coons (A31P) are well known, but only a few informations regarding their prevalence and demographics in the British Isles exist. This informations from the database of a genetic testing laboratory samples give a lot of new informations.

From the database of a genetic testing laboratory samples from 2018 ragdolls and 742 Maine coons were analysed with respect to mutation status, age, sex and county of origin.

The actual prevalence was compared to the expected Hardy鈥揥einberg prevalence by chi-squared test.

The prevalence of the R820W mutation in ragdolls was 27% (25路6% heterozygous, 1路4% homozygous), and that of the A31P mutation in Maine coons was 39路4% (36路4% homozygous, 3% heterozygous).

There were more female cats (69路5% ragdoll, 70路3% Maine coon).

The median age was 6路4鈥塵onths (ragdolls) and 5路9 months (Maine coons).

Cats from more than 60 counties were represented for each breed.

The difference between the expected and observed allele frequency was significant in Maine coons (P=0路047) but not in ragdolls (P=0路092).

This is the first report of prevalence and demographics of the R820W and A31P mutations in ragdolls and Maine coons, respectively, in the British Isles.

The prevalence is high, which is of relevance for breeding and screening programmes.

The significant difference in genetic distribution may suggest early death of homozygous Maine coons.


Source: Casamian-Sorrosal, D., Chong, S. K., Fonfara, S. and Helps, C. (2014), Prevalence and demographics of the MYBPC3-mutations in ragdolls and Maine coons in the British Isles. Journal of Small Animal Practice, 55: 269鈥273. doi: 10.1111/jsap.12201


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