RESUMEN
MayerRokitanskyKüsterHauser (MRKH) syndrome is a rare congenital female genital anomaly, which is caused by aplasia of the caudalportion of the Müllerian duct. The WNT9B gene encodes a secretory glycoprotein essential for the caudal extension of the Müllerian duct during embryonic development in mice. Coding regions and exon/intron boundaries of the WNT9B gene were amplified and sequenced in 42 Chinese women with MRKH syndrome and 42 controls. Two novel heterozygous mutationswere identified,which were absent in controls. Onewas amissensemutation in exon 1, and the other was located in the 30-untranslated region. Both variants were detected in one out of 42 patients. The two novel mutations may be pathogenic variants in MRKH patients and warrant further functional study.
Asunto(s)
Trastornos del Desarrollo Sexual 46, XX/genética , Pueblo Asiatico/genética , Anomalías Congénitas/genética , Conductos Paramesonéfricos/anomalías , Mutación Missense/genética , Proteínas Wnt/genética , Adulto , Secuencia de Aminoácidos , Secuencia de Bases , Estudios de Casos y Controles , Cartilla de ADN/genética , Femenino , Humanos , Datos de Secuencia Molecular , Técnicas de Amplificación de Ácido Nucleico , Alineación de Secuencia , Análisis de Secuencia de ADNRESUMEN
OBJECTIVE: To evaluate the effects of the selected phages with the specific peptide ligands upon the biological behaviors of the ovarian cancer cells. METHODS: Two ovarian cancer cell lines, A2780 and SKOV3, were used in the study. They were divided into three groups respectively: study group, blank control group and negative control group. The effects of the phages were evaluated by trypan blue staining, flow cytometry, colony formation test, methyl thiazolyl tetrazolium (MTT) assay and Boyden chamber invasion assay. RESULTS: The average viability of ovarian cancer cells of study groups was (72.1 +/- 6.2)%, higher than that of negative control group (84.8 +/- 4.6, P < 0.05); the apoptosis ratio of the A2780 and SKOV3 cells of study groups increased (20.39% and 43.99% vs 0); the average colony formation rate of the ovarian cancer cells was of study groups 4%, lower than the control group (15%, P < 0.05); the inhibition rates of cell proliferation of A2780 and SKOV3 cells of study groups were 11.07% and 9.58%, significantly higher than that of their respective negative control (2.05% and 1.09%); the invasion index of the ovarian cancer cells decreased compared with the control. CONCLUSION: The selected phages down-regulate the growth, proliferation and invasion ability of the ovarian cancer cells to certain extent, the identified peptide ligands may play a role in tumorigenesis and metastatic transformation of ovarian cancers.
Asunto(s)
Apoptosis , Bacteriófagos/genética , Proliferación Celular , Biblioteca de Péptidos , Bacteriófagos/crecimiento & desarrollo , Línea Celular Tumoral , Supervivencia Celular , Femenino , Citometría de Flujo , Humanos , Neoplasias Ováricas/genética , Neoplasias Ováricas/patología , Neoplasias Ováricas/virologíaRESUMEN
BACKGROUND & OBJECTIVE: Recent research had shown that survivin, a new member of the inhibitors of apoptosis proteins (IAP) family, which also plays an important role in mitosis and cell apoptosis, and selectively overexpressed in common human cancers. This study was designed to examine the expression of survivin and its correlation with expression of Fas and FasL in ovarian epithelial carcinoma. METHODS: Immunohistochemical assay (SP method) was used to detect the expression of survivin, Fas and FasL genes in 84 ovarian cancer tissues, 39 benign tumors of ovary, and 20 normal ovary tissues. RESULTS: The level of expression of survivin was higher in the patients with ovarian cancer (63.1%) than that in the patients with benign tumor of ovary (30.8%) and normal ovary tissues (0.0%)(P< 0.01). The expression level of survivin was strongly correlated with clinical stage and poor differentiation. The expression of Fas in ovarian cancer (23.8%) was significantly lower than that of ovarian benign tumor (53.8%) (P< 0.01). The expression rate of FasL was significantly higher in ovarian cancer (44.0%) than that in ovarian benign tumor (23.1%)(P< 0.05). Positive survivin expression was strongly correlated with Fas and FasL expression. CONCLUSION: (1) High expression of survivin may plays an important role in the development of ovarian cancer and could be a useful prognostic maker for patients with ovarian cancer.(2) The abnormal expression of Fas and FasL in ovary cancer and their correlation with survivin suggested that survivin might be in cooperation with Fas and FasL,which involved in the pathogenesis of ovarian cancer.
Asunto(s)
Proteínas Asociadas a Microtúbulos/análisis , Neoplasias Glandulares y Epiteliales/química , Neoplasias Ováricas/química , Adulto , Apoptosis , Proteína Ligando Fas , Femenino , Humanos , Inmunohistoquímica , Proteínas Inhibidoras de la Apoptosis , Glicoproteínas de Membrana/análisis , Proteínas Asociadas a Microtúbulos/genética , Persona de Mediana Edad , Proteínas de Neoplasias , Neoplasias Glandulares y Epiteliales/patología , Neoplasias Ováricas/patología , Ovario/química , Survivin , Receptor fas/análisisRESUMEN
OBJECTIVE: The aim of this study was to select specific targets locating on the surface of epithelial ovarian cancer cells. METHODS: Peptide phage display library was used to isolate specific ligand to ovarian cancer cell receptors. The diluted library was incubated with the normal ovarian cells that primarily cultured before hand, and then the supernatant of nonbonding phage was added to the first epithelial ovarian cancer cell line A2780. Phage that binds to the cell surface are eluted and then amplified to be used in the next round. After the third round of panning, the elute was used as input phage for the next cell line biopanning. Four epithelial ovarian cancer cell lines were used one by one in this way. Finally the positive clones were identified by ELISA assay. Sequencing analysis was carried out for further identification. RESULTS: 10 positive clones were chosen and one was regarded as target clone. A candidate sequence (YYGLAEVDAGGS) was identified by amino acid sequence assay. CONCLUSION: The phage peptide library provides an efficient selection system for searching special targets locating on the cell surface.