1.Advances in molecular genetic study of primary open angle glaucoma
Chinese Journal of Experimental Ophthalmology 2013;31(9):885-889
Primary open angle glaucoma (POAG) is a group of disorders characterized by loss of retinal ganglion cells (RGCs) associated with optic nerve degeneration and visual field damage.With the application of molecular biology in ophthalmology,at least 20 chromosome loci have been identified to be linked to POAG.Only 3 causative genes were identified from these loci,i.e.myocilin (MYOC),optineurin (OPTN) and WD repeat domain 36 (WDR36),which altogether account for less than 10% of POAG.Only a portion of POAG Complies with Mendelian inheritance,and a considerable fraction results from a large number of variants in multiple genes,each contributing less effects.The main technological approaches include family linkage analysis,genome-wide scan,casecontrol association study,etc.Association studies found at least 16 genes to be related to POAG,but reports on glaucoma-causing effects of these genes are conflicting.In this article,we reviewed the POAG related genes,especially the four well known causative genes of MYOC,OPTN,WDR36,and CA V1/CA V2,in terms of their locations,structures,functions,and mutations.
7.Effects of Various Dosage and Multiple Course of Dexamethasone on Expression of WNT Signal Transduction Pathway in Lung of Premature Rats
Journal of Applied Clinical Pediatrics 2006;0(14):-
Objective To explore the effects of various dosage and multiple course of Dexamethasone(DEX) on the expressions of WNTs,?-catenin and glycogen synthase kmase-3?(GSK-3?) genes in the lung of premature rats on the 19th day of embryo.Methods Twelve pregnant SD rats were divided into 3 groups randomly:small dose DEX group,large dose DEX group and control group with 4 rats in each group.The rats in control group were injected with saline 9 g/L;rats in small dose DEX group were injected with DEX 0.4 mg/(kg?d),and the rats in large dose DEX group were injected with DEX 0.8 mg/(kg?d) after DEX was diluted to 0.5 mL with saline.On the 19th day of gestation,fetuses were surgically taken out.The reverse transcription polymerase chain reaction PCR method was used to detect expressions of WNT7b,WNT5a,WNT2,GSK-3? and ?-catenin genes mRNA.Results The expressions of WNT7b(0.55?0.19,0.64?0.54)and ?-catenin(2.03?0.58,2.40?0.89)genes mRNA in small dose DEX group and large dose DEX group were significantly higher than those of control group(WNT7b:0.18?0.10,?-catenin:1.77?0.54)(Pa