Fig. 2

Pedigree and PCR-RFLP allele specific analyses within a family of the ML II affected cats. a Pedigree of a feline family descended from the first reported ML II affected cat [14, 15]. #3739 was the clinically asymptomatic half-brother of the originally affected cat. The family pedigree illustrates complete concordance and an autosomal recessive pattern. b Results of PCR-RFLP c.2644C > T allele specific analyses. A DNA fragment surrounding the variant was amplified by PCR, digested with PstI restriction enzyme, and visualized on 2% agarose gel stained with ethidium bromide. The amplified product is 414 bp in length, which includes one PstI digestion site. The clinically healthy kittens (7161 and 7164, and the normal control 9802) produced two fragments of 231 and 183 bp. The three ML II affected kittens (7160, 7162 & 7163) only showed an un-digested 414 bp fragment. The clinically healthy tom (4977) and queen (6431) were heterozygous for the wild type and variant alleles and therefore exhibited all three fragments of 414, 231 and 183 bp