GSD IVGlycogen Storage Disease type IV

44, 90

Specific test in Norwegian Forest Cats

Testien läpi meno : 3-6 päivää tai ilmaista 3 päivää
Aiheuttaa : Norvegien
Näytteitä : Buccal swab tai verta EDTA-putkessa tai verta kuivassa putkessa

Selvää
Sku: gsd-iv-glycogen-storage-disease-type-iv-norwegian-cats Luokka:
N/N : Normal, no copy of the GSD IV mutation. N/GSD IV : one copy of the GSD IV mutation, the cat may develop this disease. GSD IV/GSD IV : 2 copies of the GSD IV mutation, the cat may develop this disease.

What is GSD IVGlycogen Storage Disease type IV ?

Glycogen storage diseases (GSD) are a group of diseases of glycogen metabolism that result from glycogen accumulation in different tissues.
The sugars from the diet are stored as glycogen in the cells.
During exercise, this glycogen is converted into energy used by the muscles through the action of different enzymes.
GSDs have as their origin a failure of one of these enzymes. As a result, glycogen can no longer be converted into energy, so it accumulates in cells.

GSDs are classified according to the activity of the deficient enzyme and have been numbered in chronological order.
The clinical symptoms of GSD are different, depending on the enzyme that is defective and the type and location of glycogen accumulation.
In Norwegian-born cats, type IV glycogenosis (GSDIV) is caused by a deficiency of α-1,4-glucan 6-glucosyl transferase.
This disease affect 4% of Norwegian cat.
GSDIV is also known in horses and humans (Andersen’s disease).
GSDIV in Norwegian cats is due to abnormal glycogen accumulation in myocytes, hepatocytes or neurons.
This accumulation causes lethal tissue damage.

Oireita

Kittens with GSIV usually die of hypoglycemia very soon after birth. Surviving kittens die before the age of five months of progressive muscle degeneration.

GSD IV genetic test

The DNA test for the detection of GSD IV can be performed from the age of 2 months. Like all genetic tests, this test is very reliable.
The test is carried out using a suun moppi, which is quick and easy to perform.

Tässä on luettelo erityyppisistä näytteistä, jotka on hyväksytty tähän testiin:
  • suun moppi
  • Veri EDTA-putkessa
  • Verta kuiva putki

Screening and interpretation of results

The GSDIV of the Norwegian cat is due to a complex rearrangement within the GBE1 gene. This rearrangement consists of a 334 bp insertion and a 6.2 kb deletion that extends from intron 11 to intron 12.
This mutation is hereditary according to an autosomal recessive mode with complete penetrance.

Käytettävissä oleva rotu testissä: GSD IV - Glycogen Storage Disease type IV


Seuraava rotu tunnistetaan:
  • Norvegien

Testin tulosten ymmärtäminen: GSD IV - Glycogen Storage Disease type IV


N/N : Normal, no copy of the GSD IV mutation. N/GSD IV : one copy of the GSD IV mutation, the cat may develop this disease. GSD IV/GSD IV : 2 copies of the GSD IV mutation, the cat may develop this disease.
Testin nimi: GSD IV - Glycogen Storage Disease type IV
Geeni mutaatio: GBE1 g. IVS11+1552_IVS12-1339 del6.2 kb ins334 bp
Perinnöllisyys: autosomaalinen resessiivinen (lisä tietoja)
Karjaisu Täydellinen (lisä tietoja)
Testin tulosGSD IV - Glycogen Storage Disease type IV tilanGBE1 g. IVS11+1552_IVS12-1339 del6.2 kb ins334 bp)Terveyden tila
N/NNo copy of the GSD IV mutationEläin on normaalia (kirkas)
N/GSD IV1 copy of the GSD IV mutationEläin on normaalia (kirkas)
GSD IV/GSD IV2 copies of the GSD IV mutationEläin on, tulee tai saattaa vaikuttaa

Testin risti taulukko: GSD IV - Glycogen Storage Disease type IV


Äiti N/NÄiti N/GSD IVÄiti GSD IV/GSD IV
Isä N/N100% N/N50% N/N
50% N/GSD IV
100% N/GSD IV
Isä N/GSD IV50% N/N
50% N/GSD IV
25% N/N
50% N/GSD IV
25% GSD IV/GSD IV
50% N/GSD IV
50% GSD IV/GSD IV
Isä GSD IV/GSD IV100% N/GSD IV50% N/GSD IV
50% GSD IV/GSD IV
100% GSD IV/GSD IV

Sertifikaatin esimerkki testiä varten: GSD IV - Glycogen Storage Disease type IV

Avaa esimerkki sertifikaatti napsauttamalla sitä.

Sertifikaatti

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