Produktformular

Perlefortynding

Name: Perlefortynding
Brand: Equigerminal
Price: 329.0 DKK

DNA-testen verificerer tilstedeværelsen af perlemutationen. Pearl er en pelsfortyndingsmodificerende middel Eksempel 20 til 30 - hårrødder - konvolut eller 5...

329,00 kr Inkl. moms

Om testen

Denne DNA-test påviser Pearl (Prl)-allelen, en recessiv fortyndingsvariant af pelsfarve, der oprindeligt blev identificeret hos heste af iberisk oprindelse.

Pearl-genet modificerer den grundlæggende pelsfarve ved at producere gyldne fortyndingseffekter. Når det kombineres med Cream (Cr)-genet, kan det producere heste med meget lyse pelsfarver, der ligner dobbelt cream-fortyndinger.

Hvorfor teste?

Test anbefales for at:

Identificere heste, der bærerPearl (Prl)fortyndingsallelen.
Forudsige pelsfarvearv i avlsprogrammer.
Skeldne Pearl-fortynding fra andre farvefortyndingsgener som Cream (Cr).
Identificere heste, der kan producere Pearl- eller Pearl-Cream-fortyndede afkom.
Understøtte informerede avlsbeslutninger i iberiske og andre hesteracer.

Kliniske tegn

Pearl lightens the coat only in some combinations.

One copy on its own: nothing visible. The horse looks like an ordinary bay, black or chestnut.

Two copies: red and black pigment are both lightened. On a chestnut the coat goes a pale apricot or pale gold; on a bay or a black the lightening is there but more muted. The skin is pale and the eyes are often light.

One Pearl with one Cream: the horse looks like a cremello, a perlino or a smoky cream. In the Pura Raza Espanola this is called cream pearl. It looks like a double cream but passes its colour on very differently.

What fools the eye:

A chestnut with two Pearl copies read as a pale palomino
Champagne, which also lightens the coat and the eye but comes from a different gene, shows with a single copy and needs its own test

Health. No disease is linked to Pearl. Pale skin and light eyes are part of the colour, not a defect.

Transmission

Pearl is recessive. A horse needs two Pearl copies, or one Pearl and one Cream, before anything shows in the coat. 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 N/Prl gives 50% N/N, 50% N/Prl
N/N x Prl/Prl gives 100% N/Prl
N/Prl x N/Prl gives 25% N/N, 50% N/Prl, 25% Prl/Prl
N/Prl x Prl/Prl gives 50% N/Prl, 50% Prl/Prl
Prl/Prl x Prl/Prl gives 100% Prl/Prl

Forebyggelse

The result tells you which matings can give a Pearl dilute.

To get a Pearl dilute. Both parents must carry Pearl.

To get a cream pearl. Mate a horse carrying Pearl to a horse carrying Cream. The foal can be dilute even though neither parent is.

To avoid an unexpected dilute. Test both parents for Pearl and Cream. If one parent tested negative for both, no foal can be dilute from this gene.

Carrying Pearl is no reason to exclude a horse from breeding.

Resultater

N/N - Negativ for Pearl

Hesten er genetisk negativ for pearl-allelen, hvilket betyder, at den ikke har nogen kopier af denne genetiske variant. Dens fænotype afspejler den naturlige, uændrede grundfarve. Denne hest vil ikke videregive pearl-udtyndingsegenskaben til sit afkom, hvilket sikrer fortsættelsen af grundfarven i slægten.

N/Prl–Positiv Heterozygot

Hesten er positiv for Pearl-allelen i en heterozygot tilstand, hvilket indikerer, at den bærer én kopi af pearl-varianten. Denne konfiguration udtynder subtilt grundfarven og tilfører den gyldne nuancer, selvom udtyndingseffekten i nogle tilfælde muligvis ikke er visuelt tydelig. Som en heterozygot bærer er der en 50 % sandsynlighed for, at den vil overføre denne udtyndingsegenskab til sit afkom, hvilket potentielt kan føre til varierede pelsfarver blandt afkommet.

Prl/Prl - Positiv Homozygot

Hesten er positiv for pearl-allelen i en homozygot tilstand, idet den bærer to kopier af denne genetiske variant. Denne genotype manifesteres i en mere mærkbar udtynding af pelsfarven, selv i fravær af andre udtyndingsgener. Som homozygot vil hesten uvægerligt videregive pearl-allelen til alt sit afkom, hvilket sikrer egenskabens udbredelse og bidrager til mangfoldigheden af pelsfarver i fremtidige generationer.

Krav til prøver

20 til 30 hårrødder eller 5 mL blod i et K3 EDTA-rør.

Behandlingstid

2 til 5 hverdage

Sådan fungerer det

🛒 Koop de test: kies de test en koop hem online.

📧 Ontvang de instructies: na bevestiging van de betaling ontvangt u de instructies voor het afnemen van het monster per e-mail.

📄 Vul het formulier in: print het inzendformulier en vul het in met de identificatie van het dier.

✨ Neem het monster af: trek 20 tot 40 haren met wortel (bulbus) uit en plak ze in het gemarkeerde vak op het formulier, of laat uw dierenarts bloed afnemen in een K3-EDTA-buis.

📮 Stuur het naar het laboratorium: Equigerminal, S.A., HIESE, Rua da Quinta do Sobreiro, 25, Quinta Vale do Espinhal, 3230-343 Penela, PORTUGAL.

📊 Ontvang het rapport: het gecertificeerde rapport wordt uitgegeven zodra de analyse is gevalideerd.

Ofte stillede spørgsmål

Hvilke prøver accepteres?

Testen kan udføres med 20–30 hårrøddereller 5 mL blod opsamlet i et K3 EDTA-rør.

Er Pearl et dominant eller recessivt gen?

Pearl er et recessivtgen, der fortynder pelsfarven. Heste kræver generelt to kopier af allelet for at udtrykke den fulde Pearl-fænotype.

Skal denne test udføres sammen med en anden pelsfarvetest?

Ja. Test i forbindelse med Cream (Cr)DNA-testen anbefales for at forudsige pelsfarveudfald nøjagtigt i avlsprogrammer.

Hvilke racer bærer almindeligvis Pearl-allelet?

Pearl-allelet findes oftest hos renracet Lusitano (PSL), renracet spansk hest (PRE)og andre iberiske hestepopulationer.

Hvornår modtager jeg mine resultater?

Resultater er tilgængelige inden for 2 til 5 arbejdsdageefter prøvens ankomst til laboratoriet.

For Professionals

Genetic and clinical detail for veterinarians, geneticists and laboratories.

Gene / locus: SLC45A2 (formerly MATP), Cream (C) locus, ECA21. Pearl and Cream are alleles of the same gene.
Variant: C^prl (Pearl) allele, missense in exon 4. HGVS (EquCab3.0): NC_009164.3:g.31709690G>A; XM_001498110.4:c.1129G>A; XP_001498160.2:p.(Ala377Thr).
Alternative designations: published as chr21:g.31,709,654G>A, exon 4 c.985G>A, p.Ala329Thr (Sevane et al., 2019). OMIA restates the variant against a more recent RefSeq transcript and HGVS rules, which shifts the c. and p. numbering (c.985 to c.1129; Ala329 to Ala377) and the listed genomic coordinate. Laboratory allele symbol: Prl.
Variant identifiers: rs3101690631 (EVA); OMIA variant 1069.
Variant classification: not currently evaluated (ISAG/AVCG, per OMIA).
Inheritance: autosomal recessive for dilution (Prl/Prl); a single Pearl copy dilutes in compound heterozygosity with Cream (Cr/Prl), described by Sevane et al. (2019) and Holl et al. (2019). OMIA code: A (autosomal).
Breeds with documented carriers or cases: documented in American Paint Horse, Lusitano, Pura Raza Espanola and Quarter Horse. Detected in seven of 28 breeds surveyed: Andalusian, Pura Raza Espanola, Lusitano, Gypsy Cob, Gypsy Vanner, Paint Horse, Quarter Horse (Avila et al., 2022). Not detected in that study in Appaloosa, Arabian, Connemara Pony, Dutch Warmblood, Hanoverian, Icelandic Horse, Knabstrupper, Miniature Horse, Missouri Fox Trotter, Morgan Horse, Mustang, Norwegian Fjord Horse, Oldenburg, Percheron, Pony of the Americas, Rocky Mountain Horse, Shetland Pony, Standardbred, Tennessee Walking Horse, Thoroughbred or Welsh Pony; absence in a sample does not prove absence in the breed.
Allele / carrier frequencies: allele frequency (Avila et al., 2022; 11,281 horses tested, 6,878 after removing close relatives): Andalusian 12% (n=135), Pura Raza Espanola 11% (n=80), Lusitano 6.4% (n=102), Gypsy Cob 1.7% (n=60), Gypsy Vanner 1.5% (n=67), Paint Horse 0.7% (n=1,019), Quarter Horse 0.03% (n=3,189). The authors note ascertainment bias, as samples were submitted for colour testing, so figures for less-sampled breeds may be overestimated.
Clinical / diagnostic notes for veterinarians: further recessive SLC45A2 dilutions: Sunshine, found in a Standardbred x Tennessee Walking Horse cross (Holl et al., 2019), and Snowdrop, found in a Gypsy horse (Bisbee et al., 2020).

Key references:

Sevane N, Sanz CR, Dunner S (2019). Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution in horses. Anim Genet 50:275-278. doi:10.1111/age.12784. PMID 30968968.
Holl HM, Pflug KM, Yates KM, Hoefs-Martin K, Shepard C, Cook DG, Lafayette C, Brooks SA (2019). A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and sunshine, in compound heterozygote horses. Anim Genet 50:271-274. doi:10.1111/age.12790. PMID 31006892.
Bisbee D, Carpenter ML, Hoefs-Martin K, Brooks SA, Lafayette C (2020). Identification of a novel missense variant in SLC45A2 associated with dilute snowdrop phenotype in Gypsy horses. Anim Genet 51:342-343. doi:10.1111/age.12913. PMID 31961951.
Avila F, Hughes SS, Magdesian KG, Penedo MCT, Bellone RR (2022). Breed distribution and allele frequencies of base coat color, dilution, and white patterning variants across 28 horse breeds. Genes 13:1641.