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SALSA MLPA KIT P115 Retina
[http://www.geneclinics.org/profiles/hht/details.html]
This SALSA MLPA kit P115 Retina can be used to detect copy number changes of RP1, RPE65 and RHO exons. We recommend to use our new MLPA kit for Retinitis pigmentosa P235, which include probes for RHO, IMPDH1, RP1 and PRPF31. Probes for RPE65 will be available in SALSA MLPA probemix P221 LCA (March 2007). SALSA MLPA kit P219 is available for the detection of PAX6, WT1 and P229 for the detection of OPA1 exons. RENTINITIS PIGMENTOSA (RP) is diagnosed in patients with photoreceptor degeneration who have good central vision within the first decade of life, RP is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently as an autosomal recessive and least frequently as an X-linked recessive. Dominant inheritance occurs in 3 to 4% of cases. The RP1 (retinitis pigmentosa) gene located on 8q11-13 consists of 4 exons that encode a predicted protein of 2,156 amino acids. Mutations in RP1 cause at least 7% of autosomal dominant RP. The retinal pigment epithelium (RPE) is a monolayer simple epithelium apposed to the outer surface of the retinal photoreceptor cells. It is involved in many aspects of outer retinal metabolism that are essential to the continued maintenance of the photoreceptor cells, including many RPE-specific functions such as the retinoid visual cycle and photoreceptor outer segment disk phagocytosis and recycling. The RPE65 gene is located on 1p31 and has 14 coding exons spanning 20 kb. It is estimated that RPE65 gene account for approximately 2% of cases of recessive RP and approximately 16% of cases of LCA (leber congenital amaurosis). Rhodopsin (RHO) is expressed in rod photoreceptors that are affected early in retinitis pigmentosa. The RHO gene is located on 3q21-q24 and has 5 exons spanning 7 kb. Several mutations in different exons in RHO are found in patients with RP. The probe mix include contains probe for 3 of the 4 RP1 exons and 6, for 6 of the 14 RPE65 exons and for all the RHO exons. As a control, several probes for other human genes are included in each probemix. This MLPA kit is designed to detect deletions / duplications of one or more exons of the 3 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. The exact ligation sites of the MLPA probes are indicated in the description of this test. Apparent deletions of a single exon will therefore always require confirmation by other methods. We have no information on the percentage of defects in the 3 genes that are caused by deletions / duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0305 (March-2005) Current Lot Number.: Lot 0305
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
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