Objective To study the mechanism of interferon-γ(IFN-γ)on the intervention of renal carcinoma cell proliferation.Methods Using concentration of 1 000,2 000,3 000 U/mL IFN-γtreatment of renal cell carcinoma 786-0 cell line,in 24 hours,48 hours,72 hours after treatment,the inhibition rate of cell proliferation was determined with CCK-8 method,using flow cytometric analysis of cell cycle,using RT-PCR for detection of hepaCAM mRNA,and using the Western boltting method for detection of MAD1 protein expression.Results Different concentrations of IFN-γhad the inhibitory effects on renal cell carcinoma cell proliferation,the concentration of the inhibitory rate of 72 hoursand 48 hours more than 24 hours,the difference was statistically significant (P<0.05);at the same time,a higher IFN-γconcentration,the inhibition rate was greater,the difference was statistically significant (P<0.05 );the cell cycle distribution results showed,the experimental group of renal carcinoma cells proliferation in the treatment of abnormal G0/G1 phase after 48 hours;and the control group (39.89 )compared with the experimental group,the proliferation index (25.65 )decreased significantly,the difference was statistically significant (P<0.05 );results showed that,the experimental group in renal cell carcinoma cells after 48 h of treatment,compared with control group,hepaCNM mRNA,MAD1 protein expression increased obviously,the difference was statistically significant (P<0.05 ).Conclusion IFN-γcould increase the expression of MAD1 by promoting hepaCAM expression,inhibits renal carcinoma cell proliferation.

OBJECTIVETo assess the value of genetic testing for Fragile X syndrome (FXS).

METHODSA domestically made diagnostic kit based Tri-primer-PCR method was used to detect mutations of the FMR1 gene among 6 pedigrees with unexplained intellectual disability. The results were verified by methylation PCR and Southern blotting.

RESULTSPedigrees 1 and 6 were positive for the screening. In pedigree 1, a full-mutation allele with methylation was identified in the proband and his mother, which was passed on to the fetus. In pedigree 6, the proband was mosaic for a full-mutation allele and a pre-mutation allele. His sister was asymptomatic with a full-mutation. His mother carried pre-mutation allele, while his father and sister's baby were normal. The number of CGG repeats of the pedigrees 2 to 5 were in the normal range.

CONCLUSIONGenetic testing can provide an effective way to prevent FXS caused by FMR1 mutations and enable prenatal diagnosis for families with a high risk for the disease.