Genetic testing for inherited diseases of the cat

For many inherited diseases of the cat is now the possibility of using genetic diagnosis. The advantage of the genetic test is that even clinically inconspicuous animals can be identified. For breeding, it is of great advantage, mischerbige institution of a recessive defect to identify and exclude from breeding them.

The investigation is either a Gerinnungshemmer ungerinnbar's blood sample (EDTA blood) or a baking smear performed. The IS, which changed the disease, are using the so-called polymerase chain reaction in Reagenzgefäß reproduced millions of times so that they sufficiently for analysis are available. Then, in a genetic analysis of the device automatically genetic code of the IS read.

The Laboklin GmbH & Co. KG, with many veterinarians working together, now offers genetic testing to the following (source: Laboklin):

Progressive retinal atrophy (PRA-rdAc) in Abyssinian and Somali cats

Progressive retinal atrophy of the Abyssinian and Somali cats (rdAc) is a disease of the retina (retinal) caused by continuous progression eventually leads to blindness. These are the photoreceptors of the eye in the course of time destroyed. First, the rods cells lose their normal function, in the further course, the cones of the retina cells affected.
Affected cats have at birth a normal eyesight. The clinical symptoms are usually aged from 1.5 to 2 years. In the final stages of the disease, mostly aged 3-5 years, the photoreceptors and then completely destroyed the cat blind vollständig.Die for rdAC-PRA responsible mutation in the gene CEP290 was founded in 2007 by the group of Kristina Narfström (University of Missouri-Columbia, Columbia) were identified.

Inheritance: autosomal recessive

This means that only a cat falls ill, if they ever an affected gene from the father and mother received. It must be both father and mother wear the mutated gene. Makers, ie animals with only one affected gene, can not even fall ill, but the hereditary with a probability of 50% to their offspring continue.

GM1 and GM2 gangliosidosis Korat and Siam

Progressive brain disease in different breeds. Gangliosidoses come in two different forms. The GM1 gangliosidosis based on a deficiency of the enzyme b-galactosidase and the GM2 gangliosidosis on a lack of the enzyme b-Hexosaminidase.

Taken: autosomal rezsessiv

While conventional laboratory tests such as urine tests or examinations enzyme no clear identification of investment promoters allow offers DNA testing can unequivocally plant promoters of clinically healthy or sick cats to differ.

Hypertrophic cardiomyopathy (HCM) Maine Coon and Maine Coon-hybrids, Ragdoll

The hypertrophic cardiomyopathy (HCM) is a by concentric hypertrophy of the ventricle of the heart muscle disorder marked. The HCM is the most commonly diagnosed heart disease in cats. Major symptoms are a thickening of the wall of the left heart chamber (ventricle), which both globally and regionally can be a thickening of the Papillarmuskeln, a systolic forward motion of the mitral (systolic anterior movement SAM), and finally a magnification of the left ventricle and ultimately heart weakness and heart failure.

Inheritance: autosomal dominant

This means that there is already an affected allele leads to this disease. The severity of the disease is increasing, if the cat reinerbig for the mutation is, two alleles is concerned.

Pyruvatkinasedefizienz (PK) Somali / Abbesinier

In this disease, even when the man and dog happens, missing the red blood cells by the enzyme pyruvate kinase, which for the energy of red blood cells is important. Due to an impaired glycolysis in the red blood cells their lifetime is greatly reduced, creating a chronic, regenerative hemolytic anemia is caused.

Affected animals may be next to recurring symptoms of anemia such as pale mucous membranes, weakness and fatigue and severe "hemolytic crisis" with jaundice and fever develop. The number of red blood cells can be normal to be highly reduced. Suspect is an increased number of juvenile red cells in a normal red blood cell count. Occasionally, an enlarged spleen palpable. Due to the different disease, it is important that a deficiency Pyruvatkinase taken into consideration when the routine laboratory tests do not lead to a diagnosis.

Inheritance: autosomal recessive

Polycystic Kidney Disease (PKD) Persian cats, Persian Mixed Blood

The polycystic kidney disease is a common hereditary disease, the cats Persians and their descendants are concerned. About 38% of the cats Persians worldwide suffer from this disease, which accounted for 6% of the total cat population represents. The PCD can be as important inherited disease in the cat to be.

It leads next to the formation of cysts in the liver and pancreas to the formation of liquid filled cysts in the kidneys, eventually causing kidney failure leading to the death of an affected cat leads. The PCD occurs in the young age of the cat on. The diagnosis by ultrasound may be the earliest with the first appearance of disease symptoms at the age of about 8 months.

Inheritance: autosomal dominant

This means that there is already an affected allele leads to this disease. Reinerbig PKD affected by the cats were in the laboratory of Leslie Lyons in the U.S. so far not be identified, suggesting that these cats may die as embryos. (Source: Laboklin)

Glycogenspeicherkrankheit (GSD) Type IV (Norwegian Forest cat)

In the Glycogen Storage Disease Type IV is a hereditary malfunction of glucose metabolism, when the Norwegian forest cat is described.

Glucose in the liver, muscles and the nerve cells in the form of glycogen stored. The body needs energy from glucose as glycogen is off and used as an energy source. Norwegian Forest cat's ability to efficiently glucose to bind glycogen and again abzuspalten is of the highly branched structure of the glycogen-dependent. The "glycogen Branching enzyme (GBE) is needed for the training of these branched structure.

A failure of the GBE activity leads to an abnormal accumulation of glycogen in various types of cells leading to progressive Organfehlfunktionen leads. Affected kittens usually die during or shortly after birth, presumably by Überzuckerung (hyperglycaemia). Kitten who survive the birth process, have a maximum life expectancy of 10-14 months, they develop them initially normal, until it is aged about 5 months to a progressive neuromuscular degeneration, which ultimately leads to death. The GSD IV follows an autosomal recessive inheritance.

Inheritance: autosomal recessive

Source: Laboklin

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