Fig. 4

PCR amplification of structural variant. a Schematic drawing of the location of PCR primers. Two PCR primer pairs using the same forward primer (BTA14_Del_F) were designed. PCR amplification for homozygous wildtype (+/+), heterozygous (+/−) and homozygous mutated (−/−) state is shown. The forward primer is located upstream the deletion boundary. Primer BTA14_DelWt_R is located in the deleted region. Amplified PCR product size is predicted to be 970 bp long. Another reverse primer is located downstream of the deletion boundary. The 686-bp PCR product is obtained only if the region between forward and reverse primer is deleted. b Agarose gel picture of the two PCR products for two controls, two carriers and two cases