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SALSA MLPA KIT P141 & P142 NIPBL
[http://www.geneclinics.org/profiles/hht/details.html]
The NIPBL gene contains 47 exons, spans 188 Kb of chromosomal sequence and is located on chromosome 5p13.1. This gene is associated with Cornelia de Lange syndrome (CDLS), also known as Bachmann-de Lange syndrome. CDLS is a multiple malformation disorder with characteristic facial features, growth and cognitive retardation, and a variety of other abnormalities affecting a wide range of tissues and organs. Most cases of Cornelia de Lange syndrome are sporadic. Some familial cases have been reported, suggesting autosomal dominant inheritance. The incidence is 1 per 10,000-50,000 live births with no difference based on race or sex. Infants with CDLS do not develop as quickly as other children. Most have mild to moderate mental retardation, but some may be profoundly retarded (IQ range 30-85). Because of problems with the mouth, hearing impairment, and developmental delay, children with CDLS often have speech delay. Behavior problems for children with CDLS may include hyperactivity, self-injury, aggression, and sleep disturbance. These children may appear to have autism due to a diminished ability to relate to other people, repetitive behavior, difficulty with facial expression of emotion, and language delay. Most defects in the NIPBL gene are point mutations that can not be detected by MLPA. An unknown percentage of the defects in this gene are large rearrangements resulting in deletion or duplication of one or more exons. These copy number changes can be detected with the use of this MLPA kit. One P141/P142 MLPA kit contains sufficient reagents for 100 MLPA reactions: 50 reactions each of the P141 and the P142 probemix.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: P141 lot 0207; P142 lot 0307 Current Lot Number.: P141 lot 0207; P142 lot 0307
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 -- Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome. 2006 -- Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
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