HERDA - Hereditäre regionale dermale Asthenie bei Pferden
DNA-Test für Hereditary Equine Regional Dermal Asthenia (HERDA). Dieser Test überprüft das Vorhandensein des rezessiven HERDA-Gens. Probe 30 bis 40...
€43.05 Inkl. MwSt
Über den Test
Der HERDA-DNA-Testweist das Vorhandensein der rezessiven Mutation nach, die für Hereditäre Equine Regionale Dermale Asthenie (HERDA)verantwortlich ist.
Dieser Gentest identifiziert Pferde, die frei, Träger oder von HERDA betroffen sind, und hilft Züchtern, fundierte Zuchtentscheidungen zu treffen und die Geburt betroffener Fohlen zu verhindern.
Warum testen?
Ein Test auf HERDA hilft dabei:
- Pferde zu identifizieren, die die HERDA-Mutation tragen.
- Die Verpaarung zweier Trägerpferde zu vermeiden.
- Die Geburt betroffener Fohlen zu verhindern.
- Verantwortungsvolle Zuchtprogramme zu unterstützen.
- Den genetischen Status von Zuchttieren zu bestätigen.
Klinische Zeichen
Affected foals rarely show anything at birth. Serious skin damage starts on average at about a year and a half and is usually noticed between 18 and 24 months, often when the horse is first broken to saddle. A knock or a rub can bring it out as early as 6 months, and a few horses show nothing until they are four or five.
- Swellings under the skin, filled with fluid or blood, which owners often call blisters. This is the most common first sign.
- Loose skin that lifts away easily when pinched and does not spring back
- Open wounds, skin that comes away from ordinary contact, and wounds that heal badly
- Disfiguring scars, with thin white hairs where the coat grows back
- Damage along the back from the withers to the croup, and also over the hindquarters, neck, sides of the chest and belly, lower legs, face, top of the tail and coronary band
- The skin damage does not itch and is not painful in itself, but large open areas and blood-filled swellings do hurt and change the horse's behaviour
- Heat and sunlight make it worse; several weeks kept in a stable tend to improve it
- Ulcers on the surface of the eye, weaker tendons and ligaments in the lower leg and a higher risk of arthritis have also been described
- Two affected horses have been reported with a skin cancer that spread through the body
None of these signs is unique to HERDA. Your veterinarian makes the diagnosis, using the history, the examination and this result.
Übertragung
HERDA is recessive. A foal needs one copy from the sire and one from the dam to be affected. The gene is not on a sex chromosome, so colts and fillies are affected equally.
What each mating can produce:
- n/n x n/n gives 100% n/n
- n/n x n/HERDA gives 50% n/n, 50% n/HERDA
- n/n x HERDA/HERDA gives 100% n/HERDA
- n/HERDA x n/HERDA gives 25% n/n, 50% n/HERDA, 25% HERDA/HERDA
- n/HERDA x HERDA/HERDA gives 50% n/HERDA, 50% HERDA/HERDA
- HERDA/HERDA x HERDA/HERDA gives 100% HERDA/HERDA
Prävention
There is no cure, so prevention is a breeding decision.
Breeding. Mate a carrier only with a partner that tested negative, and test every foal. No affected foals are born, though some foals will be carriers. This keeps a valuable line while the variant is bred out. Being a carrier is not by itself a reason to stop breeding a horse.
Managing an affected horse. An affected horse can be kept comfortable, but no treatment restores the skin. Many are put down because they cannot be ridden and should not be bred from. Your veterinarian guides riding, wound care and quality of life.
Ergebnisse
Der DNA-Test überprüft das Vorhandensein des rezessiven HERDA-Gens und liefert Ergebnisse in einer der folgenden Kategorien:
- N/- Negativfür HERDA. Das für HERDA verantwortliche defekte Gen ist nicht vorhanden.
- N/HERDA- Träger – Positiv heterozygot für HERDA. Vorhandensein einer Kopie des für HERDA verantwortlichen Allels. Das Pferd ist Träger von HERDA und kann eine Kopie des HERDA-Allels an seine Nachkommen weitergeben, wenn es gezüchtet wird.
- HERDA/ -Positiv homozygot für HERDA. Vorhandensein von zwei Kopien des für HERDA verantwortlichen Allels. Das Pferd ist von der HERDA-Störung betroffen und kann das HERDA-Allel zu 100 % an seine Nachkommen weitergeben, wenn es gezüchtet wird.
Beispielanforderungen
30 bis 40 - Haarwurzeln - Umschlag oder 5 ml - Blut - K3 EDTA-Röhrchen
Senden Sie Ihre Probe per normaler Post oder Expressversand an:
Equigerminal Lab HIESE
Rua da Quinta do Sobreiro Nº25
3230-343 Penela, Portugal
Bearbeitungszeit
2 bis 5 Werktage
Wie es funktioniert
🛒 Test kaufen:Wählen Sie den Test aus und kaufen Sie ihn online.
📧 Anleitung erhalten:Nach Bestätigung der Zahlung erhalten Sie Anweisungen zur Probenentnahme.
✨ Probenentnahme:Ihr Tierarzt entnimmt die Probe oder Sie entnehmen Haarwurzeln gemäß den bereitgestellten Anweisungen.
📄 Einsendeformular herunterladen:Laden Sie das ausdruckbare Einsendeformular herunter.
📮 Proben einsenden:Senden Sie an:
Equigerminal Lab HIESE
Rua da Quinta do Sobreiro Nº25
3230-343 Penela, Portugal
📄 Ergebnisse erhalten:Ihr DNA-Testzertifikat wird per E-Mail zugesandt.
Häufig gestellte Fragen
Was ist HERDA?
HERDA ist eine erbliche Hauterkrankung, die bei betroffenen Pferden zu extrem empfindlicher Haut, schlechter Wundheilung und starker Narbenbildung führt.
Können Trägertiere die Krankheit entwickeln?
Nein. Trägertiere sind klinisch gesund, können die HERDA-Mutation aber an etwa 50 % ihrer Nachkommen weitergeben.
Welche Rassen sind am häufigsten betroffen?
HERDA tritt überwiegend bei American Quarter Horsesauf, insbesondere bei Cutting Horse Linien, obwohl auch verwandte Rassen die Mutation tragen können.
Kann HERDA verhindert werden?
Ja. DNA-Tests bei Zuchttieren und das Vermeiden von Träger-zu-Träger-Verpaarungen verhindert die Geburt betroffener Fohlen.
Wann sollte ein Pferd getestet werden?
Jedes Pferd, das zur Zucht eingesetzt werden soll, insbesondere Quarter Horses und verwandte Rassen, sollte vor der Verpaarung getestet werden, um seinen genetischen Status zu bestimmen.
For Professionals
Genetic and clinical detail for veterinarians, geneticists and laboratories.
- Gene / locus: PPIB (peptidylprolyl isomerase B, cyclophilin B), ECA1.
- Variant: G39R (Gly39Arg), missense. HGVS (EquCab3.0): NC_009144.3:g.129307092G>A; NM_001099761.1:c.115G>A; NP_001093231.1:p.(Gly39Arg).
- Alternative designations: G6R in Ishikawa et al. (2012), counted from a different starting residue of the protein; both names denote the same change. Disease synonyms: hereditary (heritable) equine regional dermal asthenia, hyperelastosis cutis.
- Variant identifiers: rs396329681 (EVA); OMIA variant 157.
- Variant classification: not currently evaluated (ISAG/AVCG, per OMIA).
- Mechanism: isomerase activity preserved, but cyclophilin B protein interactions and collagen folding are altered, so dermal collagen is abnormal (Ishikawa et al., 2012).
- Inheritance: autosomal recessive (OMIA code R; Tryon et al., 2005). Generally attributed to a founder effect.
- Breeds with documented carriers or cases: Quarter Horse (OMIA variant record); affected American Paint Horses and Appaloosas also reported, both registries with Quarter Horse ancestry. Of 58 affected horses, 52 Quarter Horses, 4 Paints, 2 Appaloosas (Tryon et al., 2005); of 50 affected horses, 43 Quarter Horses, 1 Quarter Horse cross, 4 Paints, 2 Appaloosas (White et al., 2004).
- Allele / carrier frequencies: carrier frequency 3.5% (38 of 1,079 unaffected control Quarter Horses; Tryon et al., 2007). Carrier frequency by discipline about 28% in cutting, 12.8% in western pleasure and 11.5% in working cow horses, and 1.7% in American Paint Horses (Rashmir-Raven, 2013). Carrier frequency 1.6% (2 of 125 Quarter Horses in France, both mares; White and Bourdeau, 2011). Allele frequency 13.5% in elite cutting Quarter Horses, with no change over time in the random cohort (Brown et al., 2026; 300 performance and 300 random horses born 2020 to 2024). Carrier and allele frequencies are not interchangeable; for a rare recessive the allele figure is roughly half the carrier figure.
- Clinical / diagnostic notes for veterinarians: age at first owner observation ranged from birth to four years in the White et al. (2004) series. None of those 50 horses had joint hyperlaxity or visceral involvement; later work describes joint laxity at birth in some foals, and viscera were normal in the foal and dam followed by White et al. (2007). Corneal thinning has been described. One adult HERDA/HERDA horse was reported working normally with mild signs (Patterson Rosa et al., 2021), so genotype does not predict severity. Skin biopsy is a separate procedure; histopathology is suggestive but not diagnostic, and suspected cases should be confirmed by genotyping. Fragile-skin disease not caused by this variant occurs, including in a Quarter Horse gelding (Steelman et al., 2013).
Key references:
- Tryon RC, White SD, Bannasch DL (2007). Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse. Genomics 90:93-102. doi:10.1016/j.ygeno.2007.03.009. PMID 17498917.
- Tryon RC, White SD, Famula TR, Schultheiss PC, Hamar DW, Bannasch DL (2005). Inheritance of hereditary equine regional dermal asthenia in Quarter Horses. Am J Vet Res 66:437-442. doi:10.2460/ajvr.2005.66.437.
- White SD, Affolter VK, Bannasch DL, Schultheiss PC, Hamar DW, Chapman PL, et al. (2004). Hereditary equine regional dermal asthenia (hyperelastosis cutis) in 50 horses: clinical, histological, immunohistological and ultrastructural findings. Vet Dermatol 15:207-217. doi:10.1111/j.1365-3164.2004.00402.x.
- Ishikawa Y, Vranka JA, Boudko SP, et al. (2012). Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding. J Biol Chem 287:22253-22265. doi:10.1074/jbc.M111.333336.
- White SD, Bourdeau P (2011). Prevalence of the mutation in cyclophilin B (PPIB), a causal candidate gene for HERDA, among Quarter Horses in France. Vet Dermatol 22:206-208. doi:10.1111/j.1365-3164.2010.00941.x.
- Rashmir-Raven A (2013). Heritable equine regional dermal asthenia. Vet Clin North Am Equine Pract 29:689-702. doi:10.1016/j.cveq.2013.09.001.
- Brown BN, Hughes S, Le TM, Tatar NP, Grahn JC, Carrillo-Alvarez M, Bellone RR, Finno CJ (2026). Allele frequencies of 7 inherited disorders in performance and random cohorts of American Quarter Horses (2020-2024). J Am Vet Med Assoc 1-7. doi:10.2460/javma.26.04.0256.