Peer-reviewed veterinary case report
DNA test finds brittle bone mutation in European dachshunds
By Eckardt, J et al.·Published in The Veterinary record·2013·Institute for Animal Breeding and Genetics, Germany·View original on PubMed →
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Original publication title: Population screening for the mutation associated with osteogenesis imperfecta in dachshunds.
- Species:
- dog
Plain-English summary
A study found that about 12.9% of dachshunds carry a genetic mutation linked to osteogenesis imperfecta (OI), a condition that causes fragile bones and other issues. The mutation was most common in wire-haired dachshunds, with 17.3% of them being carriers, and it was particularly prevalent in Germany, where 20.4% of dachshunds tested positive. This genetic test can help breeders avoid producing puppies with OI and can also assist veterinarians in diagnosing affected dogs. By identifying carriers, breeders can make informed decisions to reduce the risk of this genetic disorder in future litters.
People also search for: dachshund bone disease · osteogenesis imperfecta in dogs · genetic testing for dachshunds
Abstract
Osteogenesis imperfecta (OI) is a genetic disorder causing defects in the development of collagen type I. Clinical signs of affected dachshunds include multiple fractures of bones, joint hyperlaxity and dentinogenesis imperfecta. Recently, a recessive mutation in the SERPINH1 gene was detected in dachshunds and enabled the development of a DNA test to identify dachshunds carrying the mutation. The purpose of the present study was to analyse the dachshund breeding population for the frequency of the SERPINH1 mutation among the nine different breed varieties in dachshunds, birth years and countries of origin. We genotyped the OI-associated SERPINH1 mutation in 1352 dachshunds from 12 different European countries including all nine varieties. Genotyping was done using a restriction fragment length polymorphism validated by DNA sequence analysis. The overall frequency of OI carriers was 12.9 per cent. Across all different size varieties, the SERPINH1 mutation was over-represented in wire-haired dachshunds with 17.3 per cent OI carriers. Among the different countries, the proportion of OI carriers was highest in Germany with 20.4 per cent. The test is useful for dachshund breeders to prevent the occurrence of OI-affected dogs and as a diagnostic tool for veterinarians.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/23315765/