ABSTRACT
Achromatopsia is a kind of autosomal recessive cone disorder.It occurs with nystagmus,photophobia,inability of color discrimination and severely reduced visual acuity.Five pathogenic genes had been reported to be associated with achromatopsia:cyclic nucleotide-gated (CNG)A3,CNGB3,guanine nucleotide binding protein alpha transduction active pepitide 2(GNAT2),phosphodiesterase (PDE)6C and PDE6H.They are crucial for cone phototransduction.Mutations of these genes can induce achromatopsia.Gene therapy,which can recover partial visual function,has been successfully used for the treatment of achromatopsia in animal model.Clinical features,pathogenic genes functions and mutations,the animal models and gene therapy of achromatopsia were reviewed.
ABSTRACT
Objective To detect the serum levels of carbohydrate antigen 199(CA199),carbohydrate antigen 125 (CA125)and carcino-embryonic antigen(CEA)in different population,and to explore their significances in diagnosis of pancreatic cancer.Methods The serum levels of CA199,CA125 and CEA in 56 patients with pancreatic cancer (pancreatic cancer group ), 5 6 patients with benign pancreatic disease (benign pancreatic disease group ) and 56 healthy volunteers(normal control group)were detected,then the positive rates of CA199,CA125 and CEA and the sensitivities and specificities of CA199,CEA and CA125 for the diagnosis of pancreatic cancer were compared among three groups.Results The levels of serum CA199,CA125 and CEA of the patients in pancreatic cancer group were significantly higher than those in benign pancreatic disease group and normal control group (P<0.05). The positive rates of CA199,CEA and CA125 in pancreatic cancer group were 87.50 %,71.42%,and 60.71%, respectively. The positive rates of the three tumor markers of the patients in pancreatic cancer group were obviously higher than those in other two groups (P<0.05).The sensitivity of CA199(87.50%)was the highest,while the specificity of CEA (9 1.9 6%)was the highest. The method of parallel combined testing increased the diagnostic sensitivity to 95.12% and negative predictive value to 90.47%,but its specificity and the positive predictive value were decreased. Serial combined examination increased the diagnostic specificity to 92.86% and the positive predictive value to 89.19%,but its sensitivity and negative predictive value were decreased.Conclusion Combined detection of serum levels of CA199,CA125 and CEA has higher sensitivity and specificity than single-marker detection in the diagnosis of pancreatic cancer.
ABSTRACT
ObjectiveTo study the dose and time effects of X-ray radiation on the expression of Pokemon gene and protein in human lung adenocarcinoma cell line A549.MethodsA549 cells was exposed to different doses of X-ray (2,4,6 and 8 Gy),and the expression of Pokemon mRNA and protein of the cells was detected by using Quantitative real-time PCR and western-blotting at 2,4,8,12,24,and 48 h after irradiation. 3-( 4,5-Dimethylthiazol-2-yl )-2,5-diphenyltetrazoliumbromidewasused to detectthe proliferation of A549 cells at 1,2,3,4,and 5 d after 2 Gy X-ray irradiation.The mock treated A549 cells were used as the control.ResultsThe expression of Pokemon mRNA trended to decrease after irradiated with 4,6 and 8 Gy in the earlier period and increased in the later period with statistical difference at the most time points (t =3.40 -154.76,P =0.000 -0.041 ).The expression of Pokemon protein trended to increase and reached the peak at 8 h after irradiated of 2,4,6 and 8 Gy with statistical difference at the most time points ( t =4.18 - 89.64,P =0.000 - 0.039).Compared with the control,the proliferation of A549 cells was significantly inhibited during 3 to 5 d after irradiation of 2 Gy ( t =2.34 - 18.19,P =0.000 -0.040).ConclusionsX-ray irradiation may increase the expression of Pokemon mRNA and protein in A549 cells,which might be correlated with radiation-resistance of A549 cells.