G6-Sulfatase Deficiency (G6-S MPSIIID)

Description:

G6-Sulfatase Deficiency (G6-S MPSIIID)

Quick Summary

G6-Sulfatase deficiency is an inherited autosomal recessive metabolic defect that occurs in Nubian goats and related crosses. Affected goats exhibit delayed motor development, growth retardation, and early death.

Phenotype: Goats affected by G6-Sulfatase deficiency exhibit delayed motor development, growth retardation, and early death.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal/Unaffected, G = G6-Sulfatase deficiency

Breeds appropriate for testing: Nubian and breeds derived from Nubian stock

Explanation of Results:

• Goats with N/N genotype will not have G6-Sulfatase deficiency and cannot transmit this G6-Sulfatase deficiency variant to their off spring.
• Goats with N/G genotype will not be affected by G6-Sulfatase deficiency, but are carriers. They may transmit this G6-Sulfatase deficiency variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% G6-Sulfatase deficiency-affected kids.
• Goats with G/G genotype will have G6-Sulfatase deficiency, a condition leading to delayed development and early death. 

G6-Sulfatase deficiency is an inherited metabolic defect that occurs in Nubian goats and related crosses. A mutation in the G6-S gene renders the enzyme incapable of degrading complex polysaccharides known as heparin-sulfate glycosaminoglycans (HS-GAGs) which then abnormally accumulate in tissues such as the central nervous system and viscera. Clinically, affected goats exhibit delayed motor development, growth retardation, and early death.

The disease is inherited in an autosomal recessive fashion. Therefore, both sexes are equally affected and two copies of the defective gene must be present for signs of the disorder to be observed. Breeding two carrier goats, which are normal but each possesses a single copy of the mutation, is predicted to produce 25% affected offspring.

Breeders can use results from this test as a tool for selection of mating pairs to avoid producing affected kids. The test is recommended for Nubian goats and breeds derived from Nubian stock.

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Resource:

UC Davis (Discounts given through the registries)

Turnaround Time:

15 + Days

Type of Sample:

20-30 Hairs with Roots

Price:

$30 – UC Davis

$25 – MDGA