GSD IV – Glcogen skladište bolesti tip IV

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Specific test in Norwegian Forest Cats

Test preokret : 3-6 dana ili Express 3 dana
Rađa : Norvegien
Uzorke : Buccal swab, ili krv u jajskoj cevi, ili krv u suvoj cevi

Opozovite izbor
Mj: gsd-iv-glycogen-storage-disease-type-iv-norwegian-cats Kategorija:
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.

Symptoms

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.
Test se izvodi korišćenjem Buckal pereš, što je brzo i lako za izvođenje.

Evo liste različitih tipova uzoraka koji su prihvaćeni za ovaj test:
  • Buckal pereš
  • Krv u EDTI cevi
  • Krv u suvoj cevi

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.

Raspoloživa rasa za test: GSD IV - Glycogen Storage Disease type IV


Prepoznata je sledeća rasa:
  • Norvegien

Razumevanje rezultata testa: 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.
Ime testa: GSD IV - Glycogen Storage Disease type IV
Džine mutacije: GBE1 g. IVS11+1552_IVS12-1339 del6.2 kb ins334 bp
Nasledni automatski predsesivno (više informacija)
Penetrance : complete (više informacija)
Rezultat testaGSD IV - Glycogen Storage Disease type IV statusGBE1 g. IVS11+1552_IVS12-1339 del6.2 kb ins334 bp)Zdravstvenog statusa
N/NNo copy of the GSD IV mutationŽivotinja je normalna (jasna)
N/GSD IV1 copy of the GSD IV mutationŽivotinja je normalna (jasna)
GSD IV/GSD IV2 copies of the GSD IV mutationŽivotinja je, Will ili bi mogla biti pogođena

Unakrsna tabela testa: GSD IV - Glycogen Storage Disease type IV


Majka N/NMajka N/GSD IVMajka GSD IV/GSD IV
Otac N/N100% N/N50% N/N
50% N/GSD IV
100% N/GSD IV
Otac 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
Otac GSD IV/GSD IV100% N/GSD IV50% N/GSD IV
50% GSD IV/GSD IV
100% GSD IV/GSD IV

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