Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.

Abstract excerpt

BACKGROUND: More than 90% of the cases of Congenital Adrenal Hyperplasia (CAH) are associated with mutations in 21-hydroxylase gene (CYP21A2). Up to now, large CYP21A2 rearrangements have been mainly detected by Southern blot analysis, although more rapid methods have been alternatively proposed. In this paper, we report the use of a multiplex ligation-dependent probe amplification (MLPA) method for easy and...

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