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Za genetski test trebamo uzorak krvi ili bris usne šupljine.
Većina genetskih testova završena je u roku od tri do pet radnih dana.
O rezultatima obavijestimo vas putem e-maila i izvještaj šaljemo poštom.
What are genetic diseases?
Genetic diseases are caused by one or more changes (mutations) on the DNA. They can be monogenic, where one or more mutations are present in a single gene; polygenic, involving mutations of several genes; or the entire chromosome may be defective. Mutations can be hereditary (passed from parents to offspring) or occur spontaneously during embryonic development (de novo mutations).   There are almost 800 hereditary diseases and specific hereditary traits known in dogs until now. Almost half of hereditary diseases and specific hereditary traits are inherited by simple/Mendelian mode of inheritance. Majority of hereditary diseases in dogs are monogenic with an already known mutation. Because of the mostly simple mutations such genetic defects are best studied and consequently well described. Often the discovery of a causal mutation is followed by the development of a genetic test. In polygenic diseases, however, the number of genes involved is so large it is difficult to describe the exact genetic cause of the disease. Due to the complexity of the genetic basis of these diseases they are still not studied enough, and genetic tests are often not available for them.     Genetic diseases can affect all parts of the body. The most studied genetic diseases are diseases of the eyes, skin, muscles, heart, kidneys, neurological disorders, blood diseases, immune diseases, hormonal diseases, metabolic diseases and skeletal diseases. Of all the groups of genetic diseases listed above, genetic eye diseases are the most studied in dogs, as mutations that cause visual impairment in dogs are relatively common. Vision is one of the basic body functions that enables a dog to have a normal quality of life, so the need to research the genetic basis of eye diseases has greatly increased. To date, dozens of mutations are known to be responsible for the development of eye diseases. However, due to the genetic diversity of breeds, some of the described mutations are present only in some dog breeds. This is why one mutation may be responsible for the development of the same specific eye disease in one breed and another mutation in other breeds. To date, several mutations that cause the same eye disease in different breeds of dogs have been described. Therefore, when choosing a genetic test, we must be especially careful to use a genetic test for the mutation that occurs in the selected breed.   In addition to studying genetic diseases responsible for body function defects, a new branch of genetics called pharmacogenetics has been developed. Pharmacogenetics investigates the genetic basis for different responses to drugs between individuals. In dogs, the genetic test for the MDR1 gene mutation (Ivermectin sensitivity) is particularly well-known. Severe neurotoxicosis in animals with MDR1 gene mutation are expressed after application of certain drugs.   Genetic diseases in dogs are untreatable, as gene therapy in dogs is not yet used for general health purposes. Gene therapy is a treatment procedure where an undamaged gene (therapeutic gene) is introduced into the body to replace a defective or missing gene. With the help of gene therapy, we achieve that the mutation or gene damage can no longer cause genetic disease. Due to the incurability of genetic diseases, it is very important to use genetic tests. Based on the genetic test results, in some diseases we can more effectively facilitate the symptoms of the disease or avoid more severe forms of such a disease. Genetic test results are, beside others, an important factor influencing the mating partner selection, as with proper breeding many genetic diseases can be avoided.
Modes of inheritance - why it is important that I understand them?
Purebred dogs as we know them today are the result of intensive selection over the last few hundred years, which from an evolutionary point of view represents a recent event. Each breed arose from a small number of founder animals selected by man based on their behavioural (e.g., guarding, hunting…) and morphological characteristics (e.g., body size and shape, coat colour, coat length…). With careful selection and inbreeding, desirable traits were fixed within each breed, but at the same time there was an unintentional fixation of undesirable traits such as genetic diseases, morphological anomalies, and various predispositions. Currently, more than 400 breeds of dogs are recognized, each of which is unique in terms of specific characteristics, but also has a specific burden in terms of genetic diseases.   With improvements in the field of genetics, many dog DNA tests have been developed. They enable us to confirm the cause of a certain genetic disease or trait. Once the result of the DNA test is known knowledge about the mode of inheritance is crucial for further breeding (eradication of the disease, breeding of the desired traits). The mode of inheritance can be simple (a trait is controlled by one mutation) or complex (a trait is controlled by several mutations and environmental factors). There are 5 simple modes of inheritance: autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant, and Y-linked inheritance. There is also exclusive maternal inheritance, which is linked to mitochondrial DNA.     Autosomal recessive inheritance This type of inheritance is characterized by the presence of healthy carriers, males and females being affected with equal frequency, and equivalent transmission to offspring from males and females. An autosomal recessive disease requires the presence of two mutated alleles for its expression. This type of inheritance is most frequent when talking about simple genetic diseases in dogs. Affected individuals usually have healthy parents (carriers). A higher frequency of the disease occurs in the case of inbreeding. If we breed two healthy carriers, we can statistically expect a quarter of the affected offspring. The main problem with this mode of inheritance is posed by healthy carriers, which can only be detected by DNA testing.   Autosomal dominant inheritance This type of inheritance is characterized by the absence of healthy carriers, males and females being affected with equal frequency, and equivalent transmission to offspring from males and females. In autosomal dominant mode of inheritance one of the parents of the affected individual is also affected. An individual who has one affected and one healthy parent has a 50% chance of being affected. Most autosomal dominant diseases show incomplete penetrance, meaning that not all individuals carrying the mutation show signs of the disease. These individuals do not express their genotype but pass it on to their offspring. Because not all individuals with the mutation show signs of the disease, it is recommended to use DNA tests when planning mating. DNA test can detect all animals with the disease genotype.   X-linked recessive inheritance X-linked inheritance differs from autosomal inheritance in that the causal mutation is located on the X sex chromosome. Consequently, transmission to offspring and the risk of developing the disease in males (having one X chromosome) and females (two X chromosomes) are not the same. In females, the mutation must be present in two copies to express the disease, and in males only in one copy because they have only one X chromosome. Consequently, X-linked recessive diseases affect males to a greater extent than females. Affected males usually have healthy parents where the female is a healthy carrier. Male puppies from a healthy carrier mother have a 50% risk of being affected. Rare affected females are the result of mating an affected male and a healthy female carrier.   X-linked dominant inheritance X-linked dominant diseases and traits are caused by a dominant mutation located on the X chromosome. There are no healthy carriers, females and males with the mutation on the X chromosome are affected. Diseases with this type of inheritance affect females more often than males. A diseased male will transmit the disease to all his female offspring, and a diseased female to only half of her offspring (male or female).   Y-linked inheritance Only males have the Y chromosome therefore Y-linked diseases and traits occur only in males, and only males can pass them on to their male offspring. This mode of inheritance has not yet been described in dogs.   Complex inheritance The development of complex or polygenic hereditary diseases and traits is influenced by many genes. The number of these genes and the proportion of their influence on the development of the disease is usually unknown. Consequently, the disease occurs in litters randomly. It is very difficult to predict the percentage of affected offspring, despite knowing the clinical status of the parents. Complex hereditary diseases are heavily influenced by environmental factors that, along with genes, influence the development of a disease or trait. An example of a complex disease is hip dysplasia in which several genes that give the genetic component of the disease have been associated with the disease, and at the same time it has been found that environmental factors (food, physical activity) also have a great influence on the development of the disease.   Maternal / mitochondrial inheritance Mitochondrial diseases and traits are transmitted exclusively by the mother. Their development is influenced by genes located on mitochondrial DNA. Unlike other DNA, mitochondrial DNA is not found in the cell nucleus but in special cellular organelles - mitochondria. During fertilization, only maternal mitochondria are transferred to the embryo, which is why mutations in mitochondrial DNA are transmitted only through the mother. This mode of inheritance is extremely rare.