1. SINE insertion in exon 2 of the ATP1B2 gene (ATP1B2:c.130_131ins227).
SINE insertion in exon 2 of the ATP1B2 gene (ATP1B2:c.130_131ins227). (A) A 227 bp SINE insertion was found in homozygous state in five Malinois puppies affected by SDCA2 after position 130 of the ATP1B2 coding sequence. The SINE belonged to the SINEC2A1_CF family derived from an endogenous tRNA gene. 15 nt flanking the insertion site were duplicated. (B) Experimental genotyping of the SINE insertion by fragment size analysis. We amplified exon 2 of ATP1B2 and flanking intron segments by PCR and separated the products of dogs with the three different genotypes by capillary gel electrophoresis.
Nico Mauri et al. G3 2017;7:
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