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The Thai Journal of Veterinary Medicine

Abstract

Autosomal dominant polycystic kidney disease (ADPKD), caused by the PKD1 c.10063C>A mutation, is a prevalent inherited feline disorder, but its allele frequency in Vietnam remains unidentified. This study aimed to determine the carrier frequency of this variant in British Shorthair, Maine Coon, and Ragdoll cats in Ho Chi Minh City and to correlate genotype with ultrasonographic phenotype. Ninety-seven client-owned cats were genotyped for the pkd1 mutation using PCR-RFLP. A subset of 47 cats also underwent abdominal ultrasonography to detect renal cysts. Genotypic results were correlated with sonographic findings, and risk factors were analyzed using chi-square tests and odds ratios (OR). Sixteen of 97 cats (16.5%) were heterozygous carriers, yielding an overall mutant-allele frequency of 0.08. No homozygous mutants were found. Breed-specific carrier frequencies were 56.3% in British shorthairs, 25% in Maine Coons, and 18.7% in ragdolls. Among the 47 ultrasonographically examined cats, there were nine (19.1%) had renal cysts, and eight of whom were mutation carriers. The sensitivity and specificity of the genetic test relative to ultrasound were 88.9% and 97.4%, respectively. A strong genotype-phenotype correlation was confirmed, where mutant carriers had significantly higher odds of having kidney cysts detected on ultrasound (OR = 296.0; P < 0.001). The PKD1 c.10063C>A allele is present at a significant frequency in popular non-Persian breeds in Vietnam. In conclusion, PCRRFLP is a rapid and accurate screening tool, supporting its integration into breeding programs and clinical practice to mitigate ADPKD incidence and improve feline health.

DOI

10.56808/2985-1130.3970

First Page

1

Last Page

8

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