ABSTRACT
<p><b>OBJECTIVE</b>To determine the disease-causing mutation in a Chinese patient with Apert syndrome (AS).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of the AS patient and his parents. Polymerase chain reaction (PCR) was used to amplify the exons 7 and 9 of fibroblast growth factor receptor 2 (FGFR2) gene. Then PCR products were sequenced bi-directionally.</p><p><b>RESULTS</b>A heterozygous 934C to G transversion in exon 7 of the FGFR2 gene was detected in the patient, which resulted in the substitution of tryptophan residue for serine at position 252 of FGFR2 protein (S252W). This mutation has been reported in AS patients previously.</p><p><b>CONCLUSION</b>This Chinese AS results from the 934 C to G mutation in exon 7 of FGFR2 gene.</p>
Subject(s)
Adult , Child , Female , Humans , Infant, Newborn , Male , Acrocephalosyndactylia , Genetics , Pathology , Asian People , Genetics , Base Sequence , DNA Mutational Analysis , Mutation , Genetics , Pedigree , Receptor, Fibroblast Growth Factor, Type 2 , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To evaluate the translocation of 5-lipoxygenase (5-LOX)) after injuries by transfection with green fluorescence protein (GFP)/5-LOX in PC12 cells.</p><p><b>METHODS</b>PC12 cells were stably transfected with pEGFP-C2/5-LOX (GFP/5-LOX) or pEGFP-C2 vectors (control). After treatment with oxygen-glucose deprivation (OGD), H(2)O(2) or NMDA, GFP/5-LOX localization in the cells was observed under a fluorescence microscope. Wild-type 5-LOX was determined by immunostaining after the treatment.</p><p><b>RESULT</b>In the GFP/5-LOX-transfected cells, GFP/5-LOX was primarily localized in the nucleus; while in the GFP-transfected cells, GFP was localized in both the cytoplasm and nucleus. After OGD and H(2)O(2) treatments, GFP/5-LOX was translocated to the nuclear membrane in 50.6 % and 57.7% cells respectively. However, after NMDA treatment or in GFP-transfected cells, no translocation was observed. Wild-type 5-LOX was distributed in the nuclei and cytoplasm, and all the 3 treatments induced 5-LOX translocation to the nuclear membrane.</p><p><b>CONCLUSION</b>In the PC12 cells stably transfected with GFP/5-LOX, GFP/5-LOX is primarily distributed in the nuclei; the OGD-, H(2)O(2)- and NMDA-induced 5-LOX translocation exhibits different properties.</p>