The SALSA MLPA
Probemix P311 CHD is a research use only (RUO)
assay for the detection of deletions or duplications in the GATA4
Congenital heart disease (CHD) is a common birth defect, of which ventricular septal defects are collectively the most common type. Abnormal cardiac development originates from both environmental and genetic factors. Multiple studies postulate that mutations in several genes could be implicated in CHD.
The transcription factor GATA4 forms a complex with TBX5 which interacts with a heart muscle protein, α-myosin heavy chain. Another factor, the homeobox (developmental) gene, NKX2-5
also interacts with MYH6
. Mutations of all these proteins are associated with both atrial and ventricular septal defects. In addition, NKX2-5 is associated with defects in the electrical conduction of the heart and TBX5
is related to the Holt-Oram syndrome which includes electrical conduction defects and abnormalities of the upper limb. Atrioventricular septal defect (AVSD) can also be caused by mutations in the gene encoding cell adhesion molecule CRELD1
. Bone morphogenetic protein 4 (BMP4
) was shown to have a critical role in functional heart formation in model animals; the loss of this protein resulted in various developmental defects.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK500252
The SALSA MLPA Probemix P311-B2 CHD contains 41 MLPA probes with amplification products between 124 and 475 nt. This includes: eight probes for the GATA4
gene; four probes for the NKX2-5
gene; ten probes for the TBX5
gene; four probes for the BMP4
gene; two probes for the CRELD1
gene; and three probes for the 22q11.21 region (DiGeorge region). In addition, nine references probes are included, that detect nine different autosomal chromosomal locations.
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