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Androgen Insensitivity Syndrome (AR2, AR3, AR4, AR5)* ( AIS )
Test number: 8842
Price: £ 78.00 (including VAT)
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Breeds
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Tennessee Walking Horse
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Thoroughbred
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Warmblood
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The Disease |
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Genetic sex in mammals is determined by the sex chromosomal composition of the zygote. The X and Y chromosomes are responsible for numerous factors that must work in close concert for the proper development of a healthy sexual phenotype. The role of androgens in case of XY chromosomal constitution is crucial for normal male sex differentiation. The intracellular androgenic action is mediated by the androgen receptor (AR), and its impaired function leads to a myriad of syndromes with severe clinical consequences, most notably Androgen insensitivity syndrome (AIS). AIS is a condition that results in the partial or complete inability of the cell to respond to androgens, so the animal does not become masculinized. This results in XY (genetically male) horses with female phenotype (female external genitalia and internal testis) with male-like behavior. These individuals are unable to reproduce.
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Trait of Inheritance |
X-Chromosome recessive
Possible results:
X/X: Normal female,
X/XAIS: Carrier female: The mare is clinically healthy, however the mutation will be passed on to its offspring with a probability of 50%. If the variant is passed on to male offspring, the foal will be an affected male.
X/Y: Normal male: clinically and genetically healthy male
XAIS/Y: Affected male. The male appears to be a normal female but has the male genotype (XY) and is infertile.
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Inheritance : X-CHROMOSOME
RECESSIVE
trait
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Sample Requirements |
Hair Sample from mane with roots (approx 30 hairs) or 1 ml whole blood in EDTA tube.
How to obtain a viable hair sample
Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.
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Price
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£ 78.00 (including VAT)
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