General information: The SALSA MLPA Probemix P201 CHARGE is a research use only (RUO) assay for the detection of deletions or duplications in the
CHD7 gene, which is associated with CHARGE syndrome.
CHARGE syndrome is an autosomal dominant disorder that affects many areas of the body and has an incidence of approximately 1:10.000. The pattern of malformations varies among individuals with this disorder, and infants often have multiple life-threatening medical conditions. The term
CHARGE is an acronym for the set of clinical features observed in patients and stands for
Coloboma,
Heart disease,
Atresia choanae,
Retarded growth and retarded development and/or CNS anomalies,
Genital hypoplasia, and
Ear anomalies and/or deafness.
Mutations in the Chromodomain Helicase DNA-Binding Protein 7 (
CHD7) gene have been found to be responsible for more than half of the CHARGE syndrome cases.
CHD7 is the only gene currently known to be associated with CHARGE syndrome.
The
CHD7 gene has 38 exons, spans ~189 kb of genomic DNA, and is located on chromosome 8q12.2, about 61 Mb from the p-telomere.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1117/.
Probemix content: The SALSA MLPA Probemix P201-C4 CHARGE contains 49 MLPA probes with amplification products between 130 and 481 nucleotides (nt). This includes 41 probe(s) for the
CHD7 gene. In addition, eight 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.