PK Def is an autosomal recessive disorder. In: Exotic Shorthairs, Oriental Shorthairs and Persian cats (Grahn et al. Very low frequency of this mutation was found Savannahs, Siberians and Singapuras, as well as for any new breeds developed by PK testing (genetic screening) is recommendedįor breeds with substantial frequency of causal mutation: Abyssinians, Somalis,īengals, Egyptian Maus, La Perms, Maine Coon cats, Norwegian Forest cats, Presence of the mutation in all cats tested was 9.35 %. Shorthair cats to 12.97 % in Bengali cats. Theįrequency of the presence of the intronic mutation was from 0.078 % in exotic Of 38 breeds or population) for the presence of causal intronic mutation. (2012) tested 14179 cats (representatives Include lethargy, weakness, weight loss, jaundice and abdominal enlargement. Kinase decreases erythrocyte longevity and results in anaemia. Perturbation of the regulatory enzyme pyruvate (Grahn et al., 2012) was found that is responsible for the development of theĥ3 nucleotides upstream of the exon 6 splice site and results in 13 bp deletion Regulatory glycolytic enzyme pyruvate kinase, a causal mutation c.693+304G>A Somali cats as well as in European shorthair cats. Pyruvate kinase deficiency (PK Def.) is causedīy an inherited hemolytic disease that was described in the Abyssinian and
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