Implementation of rhAmp SNP genotyping for the detection of the B3GALNT2 gene mutation associated with congenital hydrocephalus in Friesian horses in southern Sonora

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Abstract
Congenital hydrocephalus is a recessive genetic abnormal condition affecting Friesian horses, so the identification of healthy carrier animals is crucial to avoid its spread. Therefore, the objective of the present study was the detection of the mutation in the B3GALNT2 gene related to the presence of hydrocephalus through the rhAmp SNP technique to detect healthy carrier horses. The study was performed in 4 locations in southern Sonora, Mexico. Blood samples were collected from 51 Friesian horses using EDTA tubes, which were centrifuged until the leucoplatelet layer was obtained. Subsequently, the TACOTM DNA extraction kit was used to obtain DNA, which was processed by the rhAmp SNP assay to detect the mutation in the B3GALNT2 gene. A total of 7 (13.7%) Friesian horses were found to be heterozygous carriers (C/T). In conclusion, the presence of the mutant allele was confirmed by the rhAmp SNP assay, which was proposed as an effective molecular technique for the detection of horses as carriers of genetic abnormal conditions.

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