General information: The SALSA MLPA Probemix P234 GATA3 - GATA4 is a research use only (RUO) assay for the detection of deletions or duplications in the GATA3 and GATA4 genes.

The GATA4 gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognise the GATA motif, which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Mutations in the GATA4 gene have been associated with cardiac septal defects (OMIM#600576).

Microdeletions of chromosome 10p14, affecting among others the GATA3 gene, result in a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness, and renal malformations. One region that contributes to this complex phenotype is that for the syndrome of hypoparathyroidism, sensorineural deafness, and renal insufficiency (HDR). The HDR dysplasia syndrome is an autosomal dominant disorder caused by mutations or intragenic deletions of the dual zinc finger transcription factor, GATA3 (OMIM#131320).

Probemix content: The SALSA MLPA Probemix P234-A4 GATA3 - GATA4 contains 28 MLPA probes with amplification products between 130 and 373 nucleotides (nt). This includes five probes for the GATA3 gene, one probe for each exon except for exon 2, and one probe downstream of the gene. Furthermore, eight probes for the GATA4 gene are included, one probe for each of the exons and two probes for exon 7, and three probes upstream (including BLK gene) and one probe downstream of the gene (FDFT1 gene). In addition, ten 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.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 (see table below). 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.