[Correlation of fetal chromosomal abnormalities to prenatal ultrasound features].

OBJECTIVE: To investigate the correlation between fetal chromosomal abnormalities and the characteristic features of prenatal ultrasound findings. METHODS: A total of 510 cases were underwent chromosome examination by amniotic fluid or cord blood analysis to identify fetal chromosomal abnormalities. The correlation between the abnormalities and the characteristics of the prenatal ultrasound findings was analyzed. RESULTS: Fifty-three cases of abnormal karyotypes were detected with a positivity rate of 10.2%. Of these cases, 32 cases had chromosome number abnormalities, including 15 with 21-trisomy, 11 with 18-trisomy, 2 with 13-trisomy, 2 with 45, XO monomer and 2 with 92, XXXX tetraploid. Chromosome structural abnormalities were found in 21 cases, including 4 with translocation, 3 with insertion, 6 with inversion, 4 with deletion and 4 with derivation. Prenatal ultrasound showed obvious structural abnormalities in 22 cases (41.5%), structural malformation with ultrasonographic soft markers in 18 cases (34.0%), and separate ultrasonographic soft markers in 8 cases (15.1%). CONCLUSION: Prenatal ultrasound fetal abnormalities and chromosome abnormalities are closely related. Prenatal ultrasound of fetal chromosomal abnormalities usually presents with a variety of significant structural abnormalities. A greater number of malformations is associated with a greater risk of chromosomal abnormalities and increased occurrence of ultrasonographic soft markers.

[Denaturing high-performance liquid chromatography for screening antithrombin III gene mutation and polymorphisms in patients with cerebral venous thrombosis].

OBJECTIVE: To identify antithrombin III (AT-III) gene mutation and polymorphisms in pregnant women and parturients with cerebral venous thrombosis (CVT) using denaturing high-performance liquid chromatography (DHPLC). METHODS: The genomic DNA was extracted from the blood samples of 50 pregnant women and parturients with CVT and 52 matched healthy women for molecular analysis using a PCR/DHPLC assay followed by DNA sequence analysis. Ten primer pairs were designed for amplifying the AT- III promoter region and exons 1-6 including the exon/intron boundaries. A rapid screening assay based on DHPLC was established to screen the mutation and polymorphisms of AT- III gene. RESULTS: Six abnormal peaks were detected in 40 of the patients by DHPLC. Direct DNA sequencing was performed on representative samples detected by DHPLC profiling. One pathogenic heterozygous G13328A missense mutation in exon 6, and a novel silent mutation in exon 4+243 G>A were identified. Six single nucleotide polymorphism (SNP) sites were found, including 4 previously reported ones in the SNP library and two were novel SNP sites. An abnormal peak was detected in the control group by DHPLC. CONCLUSION: DHPLC allows automated and rapid high-throughput detection of AT- III gene mutation and polymorphisms in the clinical setting and prenatal diagnosis. Our findings suggested that AT- III gene mutation, as well as its polymorphisms, contributes to the occurrence of CVT in pregnant women and parturients.

[Expression of ZNF217 in human ovarian cystadenocarcinoma and its clinical significance].

OBJECTIVE: To explore the correlation of ZNF217 expression to the carcinogenesis and progression of human ovarian cancer. METHODS: Immunohistochemistry and real-time RT-PCR were used to detect ZNF217 expression in human ovarian cystadenocarcinoma, ovarian cystadenoma and normal ovary tissues. RESULTS: The expression levels of ZNF217 protein and mRNA in ovarian cystadenocarcinoma was significantly higher than those in matched ovarian cystadenoma and normal tissues (P<0.05). No significant difference was found in the expression between ovarian cystadenoma and normal ovarian tissues (P>0.05). The mRNA expression in the specimens was consistent with the protein expression of ZNF217 (P<0.05). CONCLUSION: ZNF217 gene expression is closely correlated to the occurrence and clinical stages of ovarian carcinomas, suggesting that ZNF217 can be an important candidate gene responsible for the occurrence and progression of ovarian carcinomas.

[Establishment of a nude mouse model bearing orthotopically transplanted human ovarian carcinoma expressing green fluorescent protein].

OBJECTIVE: To establish a human ovarian cancer-bearing mouse model via orthotopic transplantation of human HO-8910 cells expressing green fluorescent protein (GFP). METHODS: GFP-expressing human ovarian carcinoma HO8910/GFP cells (2 x 10(6)) in exponential phase of growth were inoculated subcutaneously in nude mice, and the generated tumor tissues were collected and transplanted below the capsule of the left ovary of 6 nude mice. The growth of the tumors was observed in vivo using a fluorescence stereomicroscope. The nude mice were sacrificed 4 weeks after transplantation to assess the tumor growth and metastasis. RESULTS: The tumors showed progressive growth at the orthotopic sites in all animals. Two weeks after the transplantation, green fluorescent mass was observed at the left costovertebral angle, and the mass increased thereafter and invaded or metastasized to the peritoneum, omentum, spleen, liver, uterus, and the pelvic lymph nodes, with a metastatic rate as much as 66.7%. CONCLUSION: The nude mouse model bearing orthotopic human ovarian carcinoma expressing GFP has been successfully established.