The results of the DNA tests for the ‘clinical and breeding report’ consist of a genetic profile. The genetic profile consists of the list of requested deviations, the associated genes/mutations and the results of the requested DNA test(s). This could be: FREE, CARRIER or SUFFERER of the mutated gene.

The following inheritances and results are described on this page:

• Inheritance and result of autosomal, recessive mutation
• Inheritance and result of autosomal, dominant mutation
• Inheritance and result of sex-linked mutation

INHERITANCE AND RESULTS OF AUTOSOMAL, RECESSIVE MUTATION:

Autosomal, recessive inheritance means that an animal may be clear (normal homozygote), affected (abnormal homozygote) or carrier (heterozygote). Carriers can pass on the mutation in the population without themselves developing the symptoms. This makes it especially important for carriers to be identified in order to prevent the disease from spreading.

Explanation for veterinarians:
• An animal is CLEAR/NORMAL and has two healthy alleles (normal homozygote). The animal will not acquire any symptoms.
• An animal is CARRIER and has one healthy allele and one defective allele (heterozygote). The animal will not acquire any symptoms.
• An animal is AFFECTED and therefore has two defective alleles (abnormal homozygote). The animal will acquire symptoms of the disease.

Explanation for breeders:
• An animal is CLEAR/NORMAL and has two healthy alleles (normal homozygote). The animal will not acquire any abnormalities when breeding and cannot pass on the abnormality to the next generation.
• An animal is a CARRIER and has one healthy allele and one defective allele (heterozygote). The animal will pass on the mutant (defective) gene to half of its offspring. In a number of cases carriers may also develop symptoms from the defective allele, but as a rule do not have any symptoms.
• An animal is AFFECTED and therefore has two defective alleles (abnormal homozygote). An affected will pass on the defective allele to all their offspring in the next generation, and will themselves develop the symptoms associated with the disease.  

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INHERITANCE AND RESULT OF AUTOSOMAL, DOMINANT MUTATION:

Autosomal, dominant inheritance means that an animal may be clear (normal homozygote), a sufferer (abnormal homozygote) or carrier (heterozygote). Carriers and affected will both have the symptoms of the mutation.

Explanation for veterinarians:
• An animal is CLEAR/NORMAL and has two healthy alleles (normal homozygote). The animal will not acquire any symptoms.
• An animal is a CARRIER and has one healthy allele and one defective allele (heterozygote). The animal will acquire symptoms of the disease.
• An animal is AFFECTED and therefore has two defective alleles (abnormal homozygote). The animal will acquire symptoms of the disease.

Explanation for breeders:
• An animal is CLEAR/NORMAL, and in that case will have two healthy alleles (normal homozygote). This animal will not acquire any abnormalities when breeding and cannot pass on the abnormality to the next generation.
• An animal is a CARRIER, where it will have a healthy allele and a defective allele (heterozygote). The animal will pass on the mutant allele to half of its offspring. Carriers can themselves also become sick.
• An animal is a AFFECTED, which means it has two defective alleles (abnormal homozygote). Sufferers pass on the defective allele to all their offspring in the next generation, and will also develop symptoms associated with the disease. 

 

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GENDER-RELATED (X-LINKED) CONDITIONS:

These are usually illnesses where the gene is located on the sex chromosomes (X-chromosome and Y-chromosome). A female animal has two X-chromosomes, whereas a male animal has only one X-chromosome and one Y-chromosome.

INHERITANCE FOR DAUGHTERS: SEE OTHER INHERITANCE, EITHER AUTOSOMAL, RECESSIVE OR AUTOSOMAL, DOMINANT.
BELOW IS THE TABLE FOR INHERITANCE OF MALE OFFSPRING

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