Croacia
A population of Piedmontese cattle was analysed in a study aimed at looking for the causal mutations for arthrogryposis and macroglossia. These two malformations affect calves and can lead to dystocia, peri-natal mortality and impaired growth. A sample of 15 calves affected by macroglossia and 15 calves affected by arthrogryposis were available. The control sample was constituted by 449 bulls from the Italian Piedmontese cattle progeny testing scheme. All animals were genotyped with the Illumina 50k bovine SNP chip. Two methods of analysis were used: a genome-wide association study (GWAS) of cases and controls and the analysis of runs of homozygosity (autozygosity-by-difference). No clear signal of association was detected in the GWAS. On chromosome 6, a short sequence for which levels of homozygosity in cases and controls differed was detected for arthrogryposis. On chromosome 2, a common stretch of homozygosity in cases and controls was detected, in the region harbouring the myostatin mutation, responsible for the characteristic double-muscling of Piedmontese cattle.
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