Genotyping Glycogen Storage Disease Type II and Type V in Cattle Reared in the Czech Republic

Abstract

Genotyping was carried out for glycogen storage disease type II and type V in seven cattle breeds. The analysis was carried out using the polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) method. In the breeds analysed [Charolais, Czech Spotted (Czech Simmental), Belgian Blue, Limousine, Blonde d'Aquitaine, Aberdeen Angus, and Beef Simmental sires reared in the Czech Republic], the recessive allele was not found in the PYGM (phosphorylase glycogen, muscle) responsible for the glycogen storage disease type V. In the same panel, the recessive allele in exon 7, exon 9 and exon 13 of the GAA (glucosidase alpha, acid), causing the glycogen storage disease type II was not found. Therefore, we have not revealed the recessives outside previous reported breeds. The knowledge of the breed-specific occurrence of inherited disorders facilitates focusing and reduces the costs of detecting the heterozygous carriers of recessive inherited disorders.

Genetic disorders in beef cattle: a review

“…Both of them are inherited as recessive autosomal disorder and occur among beef cattle (Citek et al 2007; Zlotowski et al 2006). …”

“…Glycogen storage disease type II (GSD II) (OMIA 000419-9913) is also known as generalized glycogenosis, Pompe’s disease or acid maltase deficiency (Citek et al 2007; Moreland et al 2012). It is the only one among glycogen storage disease which has a lysosomal character.…”

“…In some cases these symptoms may not be exposed right after birth—the period of disclosing these features is up to 6 months, however homozygous animals live less than 12 months (Zlotowski et al 2006). This disease affects Brahman and Shorthorn cattle (Citek et al 2007; Zlotowski et al 2006). …”

“…However, there are other mutations attributed to this disease—transition of cytosine to thymine in exon 9 (c.1351C>T) and transition of guanine to adenine in exon 16 (c.2223G>A). The first one results in decreased level of acidic α-glucosidase activity, and the second one is silent mutation (Citek et al 2007; Dennis et al 2000). …”

“…Individuals with these defects show muscle pain and weakness, as well as, problems with motoric condition. Same cases might be even lethal (Citek et al 2007; O’Rourke et al 2006; Zlotowski et al 2006). Another inherited beef trait is connected with blood and it is called the protoporphyria.…”