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SALSA MLPA KIT P050B CAH
CONGENITAL ADRENAL HYPERPLASIA (CAH) results from a deficiency in one of the enzymes of cortisol biosynthesis and CAH affects about 1 in 5000 births, giving a frequency of carriers of 1 in 35. As a result of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors. This causes excessive production of adrenal androgens from early fetal life, resulting in virilization. In about 95% of cases, CAH is caused by deficiency of the 21-hydroxylating enzyme encoded by the CYP21A2 gene on chromosome 6p21.3 Other genes near of CYP21A2 include the inactive CYP21A1 pseudogene (CYP21A1P=CYP21P), the complement C4A (a.k.a. complement component 4B, telomeric) and C4B genes, Tenascin-XB (TNXB) and its pseudogene TNXA. CYP21A2 and CYP21A1p (=CYP21P) as well as C4A and C4B are almost identical in sequence. TNXA is a small duplicated part of the TNXB gene. Orientation of genes is from 6p telomere to centromere: C4A-CYP21A1P-TNXA-C4B-CYP21A2-TNXB-CREBL1. CAH due to 21-hydroxylase deficiency is unusual among genetic diseases in that approximately 95% of the mutant alleles have apparently been generated by recombination between CYP21A2 and CYP21A1P. Approximately 20% of mutant alleles have DNA deletions of 30 kb that have been generated by unequal meiotic crossing-over, whereas 75% carry one or more mutations in CYP21A2 that are normally found in the CYP21A1p. The P050 CAH probemix is designed for the detection of large deletions and large gene conversions in the CYP21, C4 and TNXB genes on 6p21.3. The probemix included in this MLPA kit contains 6 probes for exons 1, 3, 4, 6, 8 and 10 of CYP21A2, 2 CYP21A1P specific probes, 3 different TNXB probes, 1 probe each for the complement factors and finally 1 probe for the CREBL1 gene located q-telomeric of TNXB. In addition, 19 probes specific to human genes are included as controls for copy number quantification, of these 3 are located on chromosome 6 outside the chromosome 6p21.3 region and one is specific to chromosome Y (UTY gene). A list target specific region of the chromosome 6p21.3 MLPA probes included in this mix can be found on page 5.
Full mix description (pdf)
Last change in probe mix content: Lot 0408 (April 2008) Current Lot Number.: Lot 0408
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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