The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9
2007

Mapping Retinal Atrophy in Finnish Lapphunds

Sample size: 24 publication Evidence: moderate

Author Information

Author(s): Aguirre-Hernández Jesús, Wickström Kaisa, Sargan David R

Primary Institution: Centre for Veterinary Science, University of Cambridge

Hypothesis

The study aims to identify the genetic locus associated with progressive retinal atrophy in Finnish lapphunds.

Conclusion

The progressive retinal atrophy locus in Finnish lapphunds has been mapped to the GALK1 locus on chromosome 9, suggesting a genetic basis for the disease.

Supporting Evidence

  • DNA from 12 affected Finnish lapphunds was pooled for analysis.
  • Three microsatellite markers showed a shift towards homozygosity in affected dogs.
  • Individual genotyping confirmed the association between the GALK1 marker and the disease locus.

Takeaway

Researchers found a specific gene linked to a type of eye disease in Finnish lapphund dogs, which could help prevent the disease in the future.

Methodology

DNA pooling and individual genotyping were used to map the disease locus in affected Finnish lapphunds.

Potential Biases

There is a risk of including individuals in the control group who may develop the disease later.

Limitations

The study's sample size was small, and the prevalence of the disease in the breed is unknown.

Participant Demographics

The study involved 12 affected Finnish lapphunds and 12 first-degree relatives as controls.

Statistical Information

P-Value

p<0.001

Statistical Significance

p<0.001

Digital Object Identifier (DOI)

10.1186/1746-6148-3-14

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