General Information: The SALSA MLPA Probemix P444 COL4A4 is a research use only (RUO) assay for the detection of deletions or duplications in the COL4A4 gene. Alport syndrome or hereditary nephritis is an inherited disorder of the type IV collagen biosynthesis, which is an important process in the proper formation of basement membranes in the kidney, inner ear and eye. The disease is characterized by progressive renal failure due to glomerulonephritis, hearing loss and eye abnormalities. The majority of Alport syndrome cases (~85%) are X-linked, caused by a mutation in the COL4A5 gene. In approximately 10% of the patients, the disorder is inherited in an autosomal recessive pattern, caused by homozygous or compound heterozygous mutations in the COL4A3 or COL4A4 genes (both located on chromosome 2). Some rare mutations in COL4A3 or COL4A4 cause autosomal dominant Alport syndrome (~5% of cases).

Probemix content: The SALSA MLPA Probemix P444-A2 COL4A4 contains 45 MLPA probes with amplification products between 130 and 510 nt. This P444-A2 probemix contains probes for 35 out of 48 exons of the COL4A4 gene. In addition, ten reference probes are included in this probemix, detecting ten different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.