Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5906376 | Gene | 2013 | 7 Pages |
Abstract
Using the proposed algorithm, all alleles were elucidated. False-positive results in MLPA occurred when mutations or polymorphisms were located close to the probe-binding regions. These difficulties were overcome by the association of MLPA with ASO-PCR and paternal segregation. Using these approaches, we can successfully use MLPA in a cost-effective laboratory routine for the molecular diagnosis of CAH-21OHD.
Keywords
RFLPACTHNon-classicalRCCX moduleCYP21A1PSalt-wastingCYP21A2 geneMultiplex Ligation Dependent Probe Amplification17-OHPCAHDHEASMLPA17-hydroxyprogesterone3′UTR5′UTRdehydroepiandrosterone sulfateadrenocorticotropic hormoneCongenital adrenal hyperplasiarestriction fragment length polymorphism21-hydroxylase deficiency
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Authors
Fernanda Borchers Coeli-Lacchini, Wendy Turatti, Paula Conde Lamparelli Elias, Lucila Leico Kagohara Elias, Carlos Eduardo Jr., Ayrton Custodio Moreira, Sonir Roberto Antonini, Margaret de Castro,