Produktformular

PATN1 - pletter i pelsmønster

    DNA-testen verificerer tilstedeværelsen af ​​den dominerende (PATN1) mutation. Eksempel 20 til 30 - hårrødder - konvolut eller 5 ml -...

    €43.05 Inkl. moms

      Om testenOm testen

      Denne DNA-test påviser Pattern 1 (PATN1)-mutationen, en dominant genetisk variant, der påvirker omfanget af hvide aftegn hos heste, der bærer Leopard Complex (LP)-genet.

      PATN1 er et af de store modifikatorgener, der er ansvarlige for de karakteristiske hvide aftegn, der ses hos Appaloosa og andre brogede hesteracer.

      Hvorfor teste?Hvorfor teste?

      Test anbefales for at:

      • Bekræfte tilstedeværelsen af PATN1spotting-modifikatoren.
      • Forudsige sandsynligheden for udpræget hvid spotting hos heste, der bærer Leopard Complex (LP)-genet.
      • Støtte avlsbeslutninger for Appaloosa og andre spotted pelsmønstre.
      • Adskille heste, der bærer PATN1, fra dem med andre hvide mønstergener.
      Kliniske tegnKliniske tegn

      What PATN1 looks like depends on the leopard complex gene, LP.

      Horse without LP. PATN1 shows nothing. The horse looks solid.

      Horse with one LP copy.

      • Without PATN1: usually a small white blanket over the hips, or little white
      • With PATN1: usually a leopard, white over most of the body with many coloured spots

      Horse with two LP copies.

      • Without PATN1: mostly coloured, with small white areas
      • With PATN1: usually a few-spot, nearly white with few or no spots

      One or two PATN1 copies look the same.

      Not every horse follows the rule. Other genes also affect how much white a horse has.

      Health. No disease is caused by PATN1. One study suggested it may add to the uveitis risk of LP horses; this still needs confirming. Night blindness depends on LP, not on PATN1.

      TransmissionTransmission

      PATN1 is dominant. It is inherited separately from LP. The gene is not on a sex chromosome, so colts and fillies are the same.

      What each mating can produce:

      • N/N x N/N gives 100% N/N
      • N/N x PATN1/N gives 50% N/N, 50% PATN1/N
      • N/N x PATN1/PATN1 gives 100% PATN1/N
      • PATN1/N x PATN1/N gives 25% N/N, 50% PATN1/N, 25% PATN1/PATN1
      • PATN1/N x PATN1/PATN1 gives 50% PATN1/N, 50% PATN1/PATN1
      • PATN1/PATN1 x PATN1/PATN1 gives 100% PATN1/PATN1
      ForebyggelseForebyggelse

      For leopard foals. The foal needs LP from one parent and PATN1 from at least one parent.

      For blankets rather than leopards. Use parents that tested negative for PATN1.

      Keep night blindness in mind. Foals with two LP copies are night blind. Check the LP result of both parents so that planning for colour does not produce them by accident.

      Colour should not be the only thing that decides a mating. Health, conformation and temperament are not read here.

      ResultaterResultater

      DNA-testen bekræfter tilstedeværelsen af den dominante (PATN1) mutation og præsenterer resultaterne som et af følgende:

      • N/ - Negativfor PATN1. Fravær af det dominante PATN1-gen – hest uden pletter.
      • PATN1/N- Positiv heterozygot for PATN1 (dominant). Tilstedeværelse af én kopi af det dominante PATN1-gen, der er ansvarligt for plettet pels. Hesten kan videregive PATN1-varianten til 50 % af sit afkom ved avl.
      • PATN1/-Positiv homozygot for PATN1 (dominant). Tilstedeværelse af to kopier af det dominante PATN1-gen, der er ansvarligt for plettet pels. Hesten vil videregive PATN1-genet til 100 % af sit afkom.
      Krav til prøverKrav til prøver

      20 til 30 - hårrødder - kuvert eller 5 mL - blod - K3 EDTA-glas

      Send din prøve med almindelig post eller ekspreslevering til:

      Equigerminal Lab HIESE
      Rua da Quinta do Sobreiro Nº25
      3230-343 Penela, Portugal

      BehandlingstidBehandlingstid

      2 til 5 arbejdsdage

      Sådan fungerer detSådan fungerer det

      🛒 Køb testen:Vælg og køb testen online.

      📧 Modtag instruktioner:Efter bekræftelse af betaling modtager du instruktioner til prøveindsamling.

      ✨ Prøveindsamling:Din dyrlæge indsamler hårrødder eller en blodprøve.

      📄 Download indsendelsesformular:Download den udskrivbare indsendelsesformular.

      📮 Send prøver:Send dine prøver med almindelig post eller ekspreslevering til:

      Equigerminal Lab HIESE
      Rua da Quinta do Sobreiro Nº25
      3230-343 Penela, Portugal

      📄 Modtag resultater:Få dit resultatcertifikat via e-mail.

      Ofte stillede spørgsmålOfte stillede spørgsmål

      Hvilke prøver accepteres?

      Testen kan udføres ved at bruge20-30 hårrøddereller5 mL blod opsamlet i et K3 EDTA-glas.

      Forårsager PATN1 pletter i sig selv?

      Nej. PATN1 modificerer ekspressionen af Leopard Complex (LP)-genet, men producerer ikke et plettet dække af sig selv.

      Skal denne test udføres sammen med en anden gentest?

      Ja. For den mest nøjagtige forudsigelse af pelsmønster anbefales PATN1-testning sammen medLeopard Complex (LP)DNA-testen.

      Kan en hest uden synlige pletter bære PATN1?

      Ja. Heste uden LP-genet kan bære PATN1 uden at udtrykke dets karakteristiske hvide pletmønster.

      Hvornår modtager jeg mine resultater?

      Resultaterne er tilgængelige inden for2 til 5 arbejdsdageefter prøvens ankomst til laboratoriet.

      For ProfessionalsFor Professionals

      Genetic and clinical detail for veterinarians, geneticists and laboratories.

      • Gene / locus: PATN1 (Pattern-1) locus, ECA3; marker in RFWD3 (ring finger and WD repeat domain 3).
      • Variant: single-nucleotide variant in the 3-prime untranslated region of RFWD3, strongly associated with PATN1; no coding change was found, so the marker may be in linkage with the causal variant rather than causal itself (Holl et al., 2016). No HGVS description is available in our sources.
      • Variant classification: no OMIA entry (not present in the OMIA variant table, dump of 2026-09-19); no ISAG/AVCG classification.
      • Inheritance: autosomal dominant modifier, expressed only in the presence of LP (epistatic to TRPM1 LP).
      • Penetrance / expressivity: marker present in horses with the PATN1 phenotype: Appaloosa 55/57, Knabstrupper 58/59, Miniature Horse 6/6, British Spotted Pony 9/9, Pony of the Americas 1/1; in horses without the phenotype: Appaloosa 0/60, Knabstrupper 1/28, Miniature Horse 5/19 (these five carriers had less than 40% white), British Spotted Pony 1/4, Pony of the Americas 0/1 (Holl et al., 2016). With LP/LP, PATN1 is associated with the few-spot pattern.
      • Breeds with documented carriers or cases: Appaloosa, Knabstrupper, Miniature Horse, British Spotted Pony, Pony of the Americas; absent in 327 horses of nine breeds without LP (Holl et al., 2016).
      • Allele / carrier frequencies: no population-level frequency study identified in our sources.
      • Clinical / diagnostic notes for veterinarians: interpret only with the LP genotype. Because the marker is associative, occasional discordance between genotype and phenotype is expected (see counts above). PATN1 has been suggested as an additional risk contributor to equine recurrent uveitis in Appaloosas (Rockwell et al., 2020).

      Key references:

      • Holl HM, Brooks SA, Archer S, et al. (2016). Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting. Anim Genet 47:91-101.
      • Bellone RR, Holl H, Setaluri V, et al. (2013). Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. PLoS One 8:e78280. doi:10.1371/journal.pone.0078280. PMID 24167615.
      • Rockwell H, et al. (2020). Genetic investigation of equine recurrent uveitis in Appaloosa horses. Anim Genet. doi:10.1111/age.12883.

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