DNA test for Osteogenesis Imperfecta (Brittle Bone Disease)

Post date: Nov 13, 2013 8:40:29 PM

A number of Dachshund owners have contacted us after receiving marketing e-mails from the Antagene DNA Testing Laboratory. They are providing information on a DNA test for Brittle Bone Disease.

We're aware of this test and some European research which shows that German Wires are most likely to be affected. We have no information on it being a problem in the UK, but plan to do a research sample using the available DNA test to see if the mutation is in the UK population.

Until we have completed our sample research and have established the mutation frequency in the UK population, we do not believe it is necessary to recommend UK Dachshund breeders make use of this test. However, anyone considering importing Dachshunds from Europe or Scandinavia may wish to ask the seller of any dog whether or not they have carried out this test.

The Abstract of the paper referred to above is as follows:

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.