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SALSA MLPA KIT P055 PAH
[http://www.geneclinics.org/profiles/hht/details.html]
PHENYLKETONURIA is an inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase and characterized by mental retardation. Early diagnosis of phenylketonuria (PKU), a cause of mental retardation, is important because it is treatable by dietary means. Features other than mental retardation in untreated patients include a 'mousy' odor; light pigmentation; peculiarities of gait, stance, and sitting posture; eczema; and epilepsy. Kawashima et al. suggested that cataracts and brain calcification may be frequently overlooked manifestations of classic untreated PKU. The basic defect in PKU is phenylalanine hydroxylase deficiency. Evidence of heterogeneity in phenylketonuria was presented by Auerbach et al. The PAH gene is 90 kb long and codes for a mature mRNA of 2.4 kb. Recurrent mutations had been observed at several sites, producing associations with different haplotypes in different populations. Studies of in vitro expression showed significant correlations between residual PAH activity and severity of the disease phenotype. For review see Eisensmith et al (1992). The probe mix included in this kit contains probes for all of the 13 coding exons of the PAH gene. In addition 2 probes one for the neighbouring genes ASCL1 (upstream PAH) and IGF1 (downstream PAH) are included together with 10 control probes located on other chromosomes. This MLPA kit is designed to detect deletions / duplications of one or more exons of the genes. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations / polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon will therefore always require confirmation by other methods.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0704 (July 2004) Current Lot Number.: Lot 1105
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References 2007 -- Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany. 2006-- Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis. 2006-- Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement. 2006 -- High Frequency of BMPR2 Exonic Deletions/Duplications in Familial Pulmonary Arterial Hypertension.
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