RESUMO
Objective To introduce the application of multiplex ligation-dependent probe amplification (MLPA) assays in the diagnosis of patients with hereditary neuropathy with liability to pressure palsies (HNPP).Methods Copy numbers of the exons in peripheral myelin prolein 22 (PMP22) gene,tektin 3 (TEKT3) gene and cytochrome c oxidase assembly protein 10 (COX10) gene were analyzed by MLPA in 8 patients diagnosed with HNPP clinically and 5 normal controls.Results Among the 8 patients,7 patients were identified to have deletion mutations according to their reduced peak area of PMP22 gene,TEKT3 gene and COX10 gene compared with that of normal controls.One patient with normal peak area of PMP22 gene,TEKT3 gene and COX10 gene showed no deletion of these genes.Conclusions MLPA assays can detect the copy numbers of genes in HNPP region through semi-quantitative analysis in a rapid,accurate way,which may be utilized widely in the genetic diagnosis among HNPP patients.
RESUMO
Objective To investigate the role of p38 mitogen-activated protein kinase(p38MAPK) pathway in the proliferation of SHR vascular smooth muscle cells(VSMC) induced by angiotensin Ⅱ(Ang Ⅱ) and platelet-derived growth factor-BB(PDGF-BB).Methods VSMC were obtained from SHR thoracic aorta.DNA synthesis was quantified by measuring [3H]-thymidine incorporation.The p38MAPK activity was evaluated by immunobloting technique with phospho-p38MAPK antibody.Results 1) Ang Ⅱ(10-8-10-6 mol/L),PDGF(3-30 ng/L) dose-dependently increased the proliferation activity of VSMC([3H]-TdR incorporation).Ang Ⅱ(10-7 mol/L) or PDGF(10 ng/L) significantly increased [3H]-TdR incorporation rate in VSMCs(Ang Ⅱ:11 588?1322 vs control 2546?207 counts/min,P
