General information: The SALSA MLPA
Probemix P074 AR is a
research use only (RUO) assay for the detection of deletions or duplications in the
AR gene, which is associated with androgen insensitivity syndrome (AIS) and spinal and bulbar muscular atrophy (SBMA).
AIS, formerly known as the testicular feminization syndrome, is a recessive disorder in which affected males have female external genitalia, female breast development, blind vagina and female adnexa, and abdominal or inguinal testes, despite a normal male (XY) karyotype. Partial androgen insensitivity results in hypospadias and micropenis with gynecomastia (Reifenstein syndrome). AIS is caused by mutations in the
AR gene.
X-linked spinal and bulbar muscular atrophy (SBMA, SMAX1), also known as Kennedy disease, is a recessive form of spinal muscular atrophy, which only occurs in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy and gynecomastia. The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy. It is caused by a trinucleotide CAG repeat expansion in exon 1 of the
AR gene. SBMA patients usually harbour 38 or more CAG repeats, whereas healthy individuals have 10 to 36 CAG repeats. Note that the length of the trinucleotide repeat cannot be measured by MLPA.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1429/ and
https://www.ncbi.nlm.nih.gov/books/NBK1333/.
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 P074-A4 AR contains 25 MLPA probes with amplification products between 178 and 418 nucleotides (nt). This includes 16 probes for the
AR gene. Two probes for all the eight exons with the exception of exon 6 and 7, for these exons one probe each is included, and two probes have been included for the first exon of transcript variant 2 (NM_001011645.3), which is located in intron 1 of the reference standard transcript variant 1. In addition, nine reference probes are included that detect locations on the X-chromosome. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
This probemix contains ten quality control fragments generating amplification products between 64 and 121 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and two chromosome Y-specific fragments. 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.