STUDY SUMMARY
The recent completion of the horse genome and commercial availability of an equine SNP
genotyping array has facilitated the mapping of disease genes. We report putative locali-
zation of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have
a recessive mode of inheritance, to a 2- MB region of chromosome 14 using just 10 affected
animals and 10 controls. We successfully genotyped 34 429 SNPs that were tested for
association with dwarfism using chi-square tests. The most significant SNP in our study,
BIEC2-239376 (P2df = 4.54 · 10)5, Prec = 7.74 · 10)6), is located close to a gene implicated in human dwarfism. Fine-mapping and resequencing analyses did not aid in further localization of the causative variant, and replication of our findings in independent sample sets will be necessary to confirm these results.
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