General information:
The SALSA MLPA Probemix P459 SERPINA1 is a research use only (RUO) assay for the detection of deletions or duplications in the SERPINA1 gene, which is associated with Alpha-1 antitrypsin deficiency (AATD).

AATD is an autosomal recessive disorder and is characterised by an increased risk for chronic obstructive pulmonary disease (COPD) in adults and liver disease in children and adults which, amongst others, may result in cirrhosis and panniculitis. Defects in the SERPINA1 gene on chromosome 14 are the main cause of AATD. The protein encoded by this gene is alpha-1-antitrypsin (AAT), also known as protease inhibitor (PI). The most important role of AAT is inhibiting neutrophil elastase, a protease that degrades elastin in the alveolar walls as well as other structural proteins in a variety of tissues. Defects in the SERPINA1 gene can lead to tissue damage due to uncontrolled elastase activity.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1519/.

Probemix content:
The SALSA MLPA Probemix P459-A2 SERPINA1 contains 21 MLPA probes with amplification products between 142 and 301 nucleotides (nt). This includes nine probes for the SERPINA1 gene, one probe for every exon, two probes for exon 4, and one probe for an additional exon which is only present in transcript variant 1 (NM_000295.4 sequence). In addition, 12 reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are 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, and 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.