Prenatal diagnosis of a fetus with chromosome 18p deletion and duplication / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing.@*METHODS@#G-banding chromosomal karyotyping analysis was carried out on amniotic fluid sample of the fetus and peripheral blood samples from the parents. Amniotic DNA was also subjected to CMA analysis. The fetus was also subjected to systematic ultrasound scan.@*RESULTS@#The fetus was found to have a karyotype of 46,XX,18p+. CMA has revealed a 5 Mb deletion at 18p11.32-p11.31, a 2.9 Mb duplication at 18p11.31-p11.23, and a 2.5 Mb duplication at 18p11.23-p11.22. No chromosomal aberration or microdeletion/microduplication was detected in either parent.@*CONCLUSION@#Non-invasive prenatal testing and CMA are both sensitive for the detection of chromosomal microdeletions and microduplications. CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.

Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease / 中华医学遗传学杂志

OBJECTIVE@#To detect mutation of NDP gene in a pedigree affected with Norrie disease.@*METHODS@#Sanger sequencing was used to analyze the NDP gene at Xp11.3. Prenatal diagnosis was performed on amniotic fluid sample after the causative gene was detected.@*RESULTS@#Sanger sequencing has revealed a c.2T>C (p.M1T) missense mutation of the NDP gene in the proband and the fetus. The same variation was not found in ClinVar and HGMD database.@*CONCLUSION@#The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.

Effects of LPS-mediated IL-6 production on EZH2 expression in ovarian cancer cells and its mechanism / 中国生化药物杂志

Objective The aim of this study was to investigate the expression of IL-6 induced by LPS in ovarian cancer and the effect of IL-6 on the expression of EZH2 mRNA and protein in ovarian cancer cell lines.MethodsCulture ovarian cancer cell lines, according to the different medium composition, establish the experimental group and the control group, detect the concentration of IL-6 in the supernatant of ovarian cancer cells by ELISA and the OD values of each group by MTT assay.Western blotting was used to detect the expression of EZH2 protein in ovarian cancer cells.The mRNA expression of EZH2 was detected by RT-PCR.ResultsThe expression of IL-6 in the supernatant of ovarian cancer cells was significantly higher than that in the control group (P<0.05).The proliferation of ovarian cancer cells was inhibited and the difference was statistically significant (P<0.05).The expression of EZH2 protein in ovarian cancer cells was significantly decreased, and there was statistical difference (P<0.05).The mRNA expression of EZH2 was significantly decreased, and there was statistical difference (P<0.05).ConclusionLPS could induce the expression of IL-6 and inhibit cell proliferation in ovarian cancer cells.IL-6 could inhibit the expression of EZH2.