The aim of this study was to investigate the effect of UV-B on vitamin D 2 concentration in shiitake mushrooms and in white button mushrooms. After the exposure to UV-B, at a dose of 25 kJ/m(2), the concentration of vitamin D(2) was increased to 36.7 +/- 1.4, 68.6 +/- 4.9, and 106.4 +/- 14.7 microg/g (dry weight) for pileus, middle, and gill parts of shiitake mushroom, respectively. The gill side of whole shiitake mushrooms exposed to 0, 25, 50, and 75 kJ/m(2) increased to 2.8 +/- 0.2, 13.8 +/- 1.9, 40.7 +/- 4.4, and 61.9 +/- 10.6 microg/g (dry weight) at 25 degrees C, respectively. Irradiating slices of white button mushroom was a more efficient way of increasing the vitamin D(2) content than irradiating the gill or pileus of whole mushrooms, due to the larger exposure area. As the irradiation doses increased, the vitamin D(2) concentration also increased for both types of mushrooms. In conclusion, exposure to ultraviolet light offers an effective way of increasing the concentration of vitamin D(2) in mushrooms.
Steroid 21-hydroxylase deficiency is caused by inactivating mutations in the CYP21A2 gene. This paper reports on the mutation spectrum and the genotype-phenotype correlation of 21-hydroxylase deficiency. 72 unrelated patients with congenital adrenal hyperplasia (CAH) were included. Molecular analysis of CYP21A2 was performed, via the multiplex ligation-dependent probe amplification (MLPA) analysis and sequence-specific differenzial PCR amplification of the CYP21A2 and CYP21A1P genes, using 4 pair-wise sequence-specific primers, followed by sequencing of the entire CYP21A2 gene. Large gene deletions were identified in 45 (31.3%) of the 144 unrelated CAH alleles, whereas the most frequent point mutations were intron 2 splice mutations (c.293-13A>G) (41/144, 28.5%). The MLPA analysis successfully identified 23 of 72 patients (31.9%) with single copy deletion in CYP21A2. This paper describes a rapid and accurate method for the molecular diagnosis of 21-hydroxylase deficiency, which relies on the identification of point mutations and structural rearrangements within the CYP21A2 gene.
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