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Konj Sindrom neobčutljivosti na androgene pri čistokrvni različici 2 (AIS-T2)


The Androgen Insensitivity Syndrome (AIS) Thoroughbred Variant 2 DNA test is a vital tool for horse breeders and veterinarians. This genetic test identifies carriers of AIS, a condition affecting male horses' development despite normal XY chromosomes. Early detection through the AIS Thoroughbred Variant 2 test helps prevent breeding affected stallions, ensuring healthier offspring and maintaining breed integrity. Utilizing this DNA test supports informed breeding decisions and promotes the overall well-being of Thoroughbred horses. Stay ahead in equine genetics by incorporating the AIS Thoroughbred Variant 2 test into your breeding program today. Accurate and reliable, this test is essential for responsible Thoroughbred management.

Okrajšava: AIS-T2
Analizirana mutacija: AR c.2132C/T
dedovanje: X-Linked Recessive

akronim

AIS-T2

Opazovana frekvenca

normalno

Klinična resnost

Zmerno

Klinična klasifikacija

Endokrine bolezni

Analizirana mutacija

AR c.2132C/T
p.(A711V)

Način dedovanja

X-Linked Recessive (Dokončano)

Povzetek testa:

The DNA test for Androgen Insensitivity Syndrome in Thoroughbred Variant 2 (AIS) helps identify horses carrying a genetic mutation that affects sexual development. AIS causes affected horses, typically genetically male, to develop female characteristics despite having XY chromosomes. This condition can impact fertility and breeding decisions in Thoroughbred populations. Early detection through DNA testing allows breeders to make informed choices and manage affected horses appropriately. Overall, the AIS test is a valuable tool for maintaining the health and integrity of Thoroughbred bloodlines.

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Introduction to Androgen Insensitivity Syndrome in Thoroughbred Variant 2

Androgen Insensitivity Syndrome (AIS) is a genetic condition that affects the development of sexual characteristics in individuals with XY chromosomes. In horses, particularly in the Thoroughbred breed, a specific variant known as Thoroughbred Variant 2 has been identified. This condition can have significant implications for horse breeding and performance.

Genetic Basis of AIS

AIS is caused by mutations in the androgen receptor gene, which results in a lack of response to androgens, the hormones responsible for male sexual development. In Thoroughbred Variant 2, the genetic mutation manifests in a manner that affects the horse's reproductive system and secondary sexual characteristics. Horses with this syndrome may appear externally female but possess XY chromosomes and internal male reproductive structures.

Clinical Manifestations

Horses affected by Thoroughbred Variant 2 typically display a range of clinical signs. These may include an absence of typical male reproductive organs, the presence of underdeveloped or abnormal genitalia, and a lack of behavioral traits typically associated with stallions. As a result, these horses may not be suitable for breeding purposes, leading to ethical and practical considerations in equine management.

Impact on Breeding and Performance

The presence of AIS in Thoroughbreds can significantly impact breeding programs. Understanding the genetic status of potential breeding stock is crucial for maintaining the integrity and quality of the breed. Horses identified as carriers of the AIS variant may be excluded from breeding to prevent the propagation of the condition, thus ensuring that the lineage remains strong and healthy.

Zaključek

Androgen Insensitivity Syndrome in Thoroughbred Variant 2 is a complex genetic condition that poses unique challenges for horse owners and breeders. By understanding the genetic underpinnings and clinical manifestations of this syndrome, stakeholders can make informed decisions that promote the health and viability of Thoroughbred horses. Ongoing research and genetic testing are essential for advancing knowledge and management practices related to AIS.


Pasma, priznana za test: Sindrom neobčutljivosti na androgene pri čistokrvni različici 2 (AIS-T2)

  • Thoroughbred

🧬 Interpretation of genotypes AIS-T2

Genotip
Stanje
🟡 N/N
Brez prevoznika – brez tveganja
❌ ♂ N/AIS-T2
Prizadeti – ogroženi
🟡 ♀ N/AIS-T2
Prevoznik - brez tveganja
❌ AIS-T2/AIS-T2
Prizadeti – ogroženi

Pogosta vprašanja: razumevanje interpretacije

Kaj pomeni »Počisti«?

Žival ne nosi mutacije. To ne bo razvilo bolezni in ga ne bo posredoval naprej.

Je "prevoznik" resen?

Ne. Žival je na splošno zdrava, vendar lahko prenese mutacijo na svojo potomci.

Kaj pa, če je žival "prizadeta"?

Nosi dve mutirani kopiji. Klinični znaki so pričakovani glede na bolezen. Ne sme se vzrejati.

Zakaj obstajajo razlike med moškim in žensko?

Nekatere bolezni so povezane s spolom, zato se njihov izraz razlikuje glede na spol živali.



Napoved potomcev

N/N (neprevoznik)
N/AIS-T2 (Nosilec)
AIS-T2/AIS-T2 (Prizadeti)

Pogosta vprašanja o testu DNK

Kaj ugotovi ta DNK test?

This DNA test detects the mutation associated with Androgen Insensitivity Syndrome In Thoroughbred Variant 2 (AIS-T2) in order to identify clear, carrier, or at-risk animals.

Zakaj testirati plemensko žival?

Testiranje DNK pomaga rejcem pri načrtovanju varnejših parjenj in zmanjšanju tveganja prenosa mutacije na potomce.

Kakšen je način dedovanja tega testa?

The inheritance mode reported for this test is X-Linked Recessive.

Katero mutacijo analiziramo v tem testu?

This test analyses the mutation AR c.2132C/T.

Ali je žival prenašalka nujno prizadeta?

Ni nujno. Razlaga je odvisna od vzorca dedovanja in nastalega genotipa.


Reference

Villagomez Daniel A F, Welsford Eastman G, King W Allan, Revay Tamas. Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome. Genes (Basel). 2020 Jan 10;11(1):78. doi: 10.3390/genes11010078.

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Sindrom neobčutljivosti na androgene pri čistokrvni različici 2 (AIS-T2)
Androgen Insensitivity Syndrome In Thoroughbred Variant 2 (AIS-T2) - MyLabDNA
Discover the Androgen Insensitivity Syndrome (AIS) Thoroughbred Variant 2 DNA test for horses. Ensure accurate diagnosis & breeding decisions.
Sindrom neobčutljivosti na androgene pri čistokrvni različici 2 (AIS-T2)
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Androgen Insensitivity Syndrome In Thoroughbred Variant 2 (AIS-T2) - MyLabDNA
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Discover the Androgen Insensitivity Syndrome (AIS) Thoroughbred Variant 2 DNA test for horses. Ensure accurate diagnosis & breeding decisions.
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