The SALSA MLPA Probemix P319 Thyroid is a research use only (RUO) assay for the detection of deletions or duplications in the TPO
genes. Thyroid dysgenesis (TD) accounts for most cases of congenital hypothyroidism. TD is generally a sporadic disease, but in about 5% of the cases a genetic origin has been demonstrated. In these cases, mutations in genes playing a role during thyroid morphogenesis (PAX8
) have been reported.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK279032/
The SALSA MLPA Probemix P319-B1 Thyroid contains 49 MLPA probes with amplification products between 127 and 481 nt.
gene (17 exons) spans ~129 kb of genomic DNA and is located on 2p25.3, ~1.4 Mb from the p-telomere. This probemix contains one probe for each exon of the TPO
gene (two probes for exon 8) with the exception of exon 2 and 3.
gene (10 exons) spans ~63 kb of genomic DNA and is located on 2q14.1, ~113 Mb from the p-telomere. This probemix contains one probe for each exon of the PAX8
gene (two probes for exon 1) with the exception of exon 3 and 6.
gene (1 exon) spans ~3.5 kb of genomic DNA and is located on 9q2233, ~98 Mb from the p-telomere. This probemix contains two probes for FOXE1
gene (3 exons) spans ~4 kb of genomic DNA and is located on 14q13.3, ~37 Mb from the p-telomere. This probemix contains probes for each exon of the NKX2-1
gene (10 exons) spans ~191 kb of genomic DNA and is located on 14q31.1, ~81 Mb from the p-telomere. This probemix contains one probe for each exon of the TSHR
In addition, nine reference probes are included in this probemix, detecting nine different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is 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, 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