[./productpagepag.html]
[./indexpag.html]
[./support_pagepag.html]
[./contactpagepag.html]
Copyright © 2005 - MRC-Holland
[./indexpag.html]
Home
-
[./productpagepag.html]
Products
-
[./support_pagepag.html]
Support
-
[./article_pagepag.html]
Articles
-
[./contactpagepag.html]
contact
SALSA MLPA KIT P169 Hirschsprung
[http://www.geneclinics.org/profiles/hht/details.html]
Lot 0808: Two probes for RET exons 17 and 19 have been replaced. In addition, four extra control fragments at 88-96-100-105 nt have been added. Hirschsprung disease, or aganglionic megacolon, is a congenital disorder characterized by the absence of enteric ganglia along a variable length of the intestine. Two types of Hirschsprung disease (MIM142623) have been described. The short-segment form accounts for 80% of the cases, while the long segment form accounts for the remaining 20%. Both can be caused by dominant mutations in the RET gene, as well as by recessive mutations in several other genes. Heterozygous mutations of the RET gene account for 50% of all cases. This P169-B1 MLPA kit has been designed to detect deletions and duplications of one or more exons of the four genes involved in Hirschsprung disease: RET, ZEB2, EDN3 and GDNF. " The RET gene is located on chromosome 10q11.21 and spans 55 kb of genomic DNA. Probes are present for all 20 RET exons. " The ZEB2 (ZFHX1B; SMADIP1) gene is located on chromosome 2q22.3 and spans 135 kb of genomic DNA. Mutations in the ZEB2 gene cause the Hirschsprung disease mental retardation syndrome, or Mowat-Wilson syndrome (MIM235730). Probes are included for each of the 10 ZFHX1B exons. " The EDN3 gene is located on chromosome 20q13.32 and spans 25 kb of genomic DNA. Mutations of the endothelin-3 gene can result in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Probes are present for each of the 5 EDN3 exons. " The GDNF gene is located on chromosome 5p13.2 and spans 24 kb of genomic DNA. Probes are present for each of the 4 GDNF exons. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the aforementioned genes. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe always require confirmation by other methods. 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 (pdf)
Last change in probemix content: Lot 0808 (August 2008) Current lot number.: Lot 0808
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
[./order_infopag.html]
[./products_prenatal_and_postnatalpag.html]
[./products_hereditary_cancer_researchpag.html]
[./products_various_syndromespag.html]
[./products_tumor_characterisationpag.html]
[./products_mrna_analysispag.html]
[./products_methylation_specificpag.html]
[./products_otherpag.html]
[./products_pharmacogeneticspag.html]
[./mlpapricelistpag.html]
[Web Creator] [LMSOFT]