SLC4A2 deletion mutation genotyping assay. Representative PCR amplicons for each deletion mutation genotype, separated by agarose gel electrophoresis, are shown. From left to right, the first lane represents a known osteopetrosis carrier individual, the second and third lanes represent normal individuals and the fourth and fifth lanes represent osteopetrosis-affected calves. As shown, both normal (475 bp) and mutant (330 bp) alleles are amplified from a heterozygous individual, whereas only the appropriate allele is amplified from homozygous normal and mutant individuals.
Meyers et al. BMC Genomics 2010 11:337 doi:10.1186/1471-2164-11-337