General information
The SALSA MLPA
Probemix P109 ABCB4 is a
research use only (RUO) assay for the detection of deletions or duplications in the
ABCB4 gene, which is associated with several syndromes, including progressive familial intrahepatic cholestasis type 3 (PFIC3), low phospholipid-associated cholelithiasis (LPAC; also known as gallbladder disease 1, GBD1), and familial intrahepatic cholestasis of pregnancy (ICP).
ABCB4 (ATP-binding cassette subfamily B member 4, also known as
MDR3) is a member of the superfamily of ATP-binding cassette
(ABC) transporters. These proteins transport various molecules across extra- and intracellular membranes.
ABCB4 is involved in transporting phospholipids across the hepatocyte membrane and releasing them in the bile.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK3/.
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content
The SALSA MLPA Probemix P109-B2 ABCB4 contains 37 MLPA probes with amplification products between 136 and 454 nucleotides (nt). This includes 25 probes for the
ABCB4 gene, of which three probes are located upstream of the
ABCB4 gene and 22 probes target 22 of the 28 exons. Furthermore, it also contains two probes for the
ABCB1 gene which is located near the
ABCB4 gene. In addition, ten reference probes are included and detect ten different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.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.mrcholland.com.