ALPORT MASTR - Multiplicom

Mutations in the genes COL4A3, COL4A4 and COL4A5

The ALPORT MASTR amplifies the coding regions of the genes COL4A3, COL4A4 and COL4A5. The assay provides 149 amplicons (270-510 bp) in 4 multiplex PCR reactions.

Alport syndrome (AS) is an inherited progressive disorder of renal, ocular and cochlear basement membranes. Clinically, it presents as a progressive inherited nephropathy characterized by the association of progressive hematuric nephritis with ultrastructural changes of the glomerular basement membrane (irregular thinning, thickening and splitting), high-tone sensorineural hearing loss and ocular lesions (anterior lenticonus, macular flecks, corneal endothelial vesicles, recurrent corneal erosion and cataract).

AS is a genetically heterogeneous disease arising from mutations in COL4A3, COL4A4, and COL4A5 genes coding for basement membrane type IV collagen. About 80% of AS is X-linked, due to mutations in COL4A5, the gene encoding the alpha 5 chain of type IV collagen (alpha 5).  Mutations in any of these genes prevent the proper production or assembly of the type IV collagen network, which is important structural component of basement membranes in the kidney, inner ear, and eye. The syndrome can be also inherited in an autosomal recessive pattern (about 15% of individuals) if both copies of the COL4A3 or COL4A4 gene, located on chromosome 2, have been mutated. It is estimated to effect at least 1 in 5,000 people.

Symptoms of AS include hematuria (blood in the urine) which may not be visible, proteinuria (protein in the urine)-trace to large amounts, high blood pressure, possible deafness and possible vision problems. The degree of symptoms varies between families and also between sexes, as female sufferers may have very mild symptoms. The outcome for males is usually more severe, with 90% of males suffering renal failure by the age of forty.

Note: This assay is to be used for research use only.

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