Background
The Androgen Insensitivity Syndrome (AIS) is a disorder of sexual development (DSD) and was formerly known as Testicular Feminisation Syndrome. Affected individuals show a female phenotype despite a male genotype. This is due to a loss of function of the X-linked androgen receptor (AR) which normally is responsible for masculinization and formation of secondary sexual characteristics during development. In a family of Warmblood horses, showing the typical clinical features of AIS, a deletion in the AR gene was identified as causative mutation for the disease.
Test specific information
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Age
Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
This disease is present in the entire body, but causes main effects in the internal organs such as stomach, intestinal tract, liver and / or kidneys. In a number of cases, the disease affects one major internal organ.
Breed dependence
This DNA test is available for the following breeds: Warmblood Population 1 (Netherlands).
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Hair, Tissue. Please contact PharmaDNA if you wish to submit other material as listed.
Result
The following results are possible for a female: the mode of
Inheritance
is based on recessive or dominant patterns.The following results are possible for a male:
- A male animal has the sex chromosome Y and a healthy allel. When used in breeding, this animal will not become affected by the disease, nor will the disease be inherited to the next generation.
- A male animal has the sex chromosome Y and a disease allel. When used in breeding, this animal will become affected by the disease. Also, male offspring will receive the Y-chromosome, whereas female offspring will receive the disease allele.
Inheritance
The disease is inherited in an X-chromosomal manner. This means, that female individuals can be free (homozygous normal), affected (homozygous affected) or carrier (heterozygous). Male individuals carry only one copy of the X-chromosome, which results in the effect that male carriers will also be affected. Female carriers may spread the disease in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a disease.
Severity of Disease
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