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SALSA MLPA KIT P021 SMA
[http://www.geneclinics.org/profiles/hht/details.html]
SPINAL MUSCULAR ATROPHY (SMA) is a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMA is the second most common lethal autosomal recessive disorder in Caucasians, after cystic fibrosis. The SMA disorder is usually subdivided into three clinical groups. Patients with type I SMA disease (MIM# 253300) show onset at birth or before six months, and usually die of respiratory insufficiency within two years. Type I SMA patients are never able to sit or walk. Patients with type II SMA (MIM# 253550) show onset after 6 months. They can sit but are never able to walk unaided, and life expectancy is significantly reduced. Type III SMA (MIM# 253400) patients show first symptoms after 18 months and are able to stand and walk, but often become wheelchair-bound during youth or adulthood. There are two (highly-similar) genes playing a pivotal role in SMA: SMN1 and SMN2. The two genes can only be distinguished by a single nucleotide difference in exon 7 and 8 (see next page). SMN2 is much less efficient in making the SMN protein, and it is therefore the SMN1 gene which is the determinant factor. Someone lacking a functioning copy of SMN1 is always a patient, whereas SMA carriers (carrying a single copy of the SMN1 gene) are symptom-free. Establishing the number of SMN2 copy numbers is of importance in SMA patients only: the more SMN2 copies, the better the patient will be able to make up for the loss of SMN1. Hence, there is a significant correlation between SMN2 copy number, on the one hand, and type of SMA and duration of survival, on the other. Approximately 80% of patients with type I SMA carried 1 or 2 SMN2 copies, 82% of patients with type II SMA carried 3 SMN2 copies, and 96% of patients with type III SMA carried 3 or 4 SMN2 copies. Furthermore, among 113 patients with type I SMA, 9 with 1 SMN2 copy lived less than 11 months, 88 of 94 with 2 SMN2 copies lived less than 21 months, and 8 of 10 with 3 SMN2 copies lived 33 to 66 months. In short, the more SMN2 copies a patient has, the less severe the disease is expected to be. More information about the SMA region can be found on the next page. The SMN1 and SMN2 genes are located in an inverted repeat area on chromosome 5q13. The copy number of other genes in this repeat might influence the SMA phenotype. The BIRC1 gene (also known as NAIP) is telomeric and located close to SMN1. In contrast, the centromeric copy of this gene lacks exon 5 and is called NAIP ; it is located closer to SMN2. Other genes in the SMA region include GTF2H2 (also known as BTFp44) and SERF1A (also known as H4F5) and a sequence similar to N-cadherin. This P021 probemix contains MLPA probes for several genes in this region. Deletions found in SMA patients usually include SMN1 and SERF1A. In some cases BIRC1 and GTF2H2 are co-deleted.
Full mix description (pdf)
Last change in probemix content: Lot 0405 (April 2005) Current Lot Number.: Lot 0208
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)
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15719043]
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17475491&query_hl=0&itool=pubmed_docsum]
References 2007 -- Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. 2006 -- Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. 2006-- Spinal Muscular Atrophy (SMA) genotyping by gene dosage using Multiple Ligation-dependent Probe Amplification (MLPA). Abstract ESHG 2006 2005-- Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification
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