Identification of cryptic structural chromosomal aberrations in parents through detection of copy number variations in miscarriage tissues / 中华医学遗传学杂志

Objective@#To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).@*Methods@#NGS technique was used to detect CNVs in abortion tissues. Parental chromosomal karyotypes were predicted based on the results. The aberrant chromosomal segments of the parents were accurately mapped by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH).@*Results@#In addition to numerical chromosomal aberrations, 12 microdeletion/microduplications were detected by NGS. For 8 families where both parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities were identified. One marker chromosome was missed by karyotyping analysis, and a mother was confirmed to carry a cryptic balanced translocation by FISH.@*Conclusion@#NGS can facilitate detection of cryptic chromosomal translocations in couples with repeated pregnancy failure and is of great value for detecting abnormal CNVs for its high sensitivity.

Expression of TC1 and β-catenin in Cervical Carcinoma and Precancerous Lesions and Their Significance / 中国医科大学学报

Objective To investigate the expression of thyroid cancer-1 (TC1) and β-catenin in cervical carcinoma and precancerous lesions and their significance. Methods Immunohistochemical methods were used to examine the expression of TC1 and β-catenin in80 cervical squamous cell carcinoma (CSCC) tissues, 40 high-grade squamous intraepithelial lesions (HSIL), 40 low-grade squamous intraepithelial lesions (LSIL), and 30 normal cervical tissues. Results Although TC1 expression in CSCC was significantly higher than that in LSIL (P = 0.002) and normal cervical tissues (P ＜ 0.001), it was similar to that in HSIL (P = 0.576). TC1 expression was positively correlated with poor differentiation (P = 0.005) and advanced FIGO stage (P = 0.004) in CSCC. β-catenin expression in CSCC was significantly higher than that in LSIL (P ＜ 0.001) and normal cervical tissues (P ＜ 0.001), but was similar to that in HSIL (P = 0.907). The abnormal β-catenin expression was also correlated with poor differentiation (P = 0.025) and advanced FIGO stage (P = 0.001) in CSCC. TC1 expression was positively correlated with the abnormal β-catenin expression in CSCC (r = 0.294, P = 0.008) and cervical squamous intraepithelial lesions (r = 0.549, P ＜ 0.001). Conclusion TC1 and β-catenin expression in CSCC and HSIL was significantly higher than that in LSIL and normal cervical tissues. TC1 expression correlated with the abnormal β-catenin expression, and with poor differentiation and advanced FIGO stage of CSCC.

Identification of cryptic structural chromosomal aberrations in parents through detection of copy number variations in miscarriage tissues / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).@*METHODS@#NGS technique was used to detect CNVs in abortion tissues. Parental chromosomal karyotypes were predicted based on the results. The aberrant chromosomal segments of the parents were accurately mapped by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH).@*RESULTS@#In addition to numerical chromosomal aberrations, 12 microdeletion/microduplications were detected by NGS. For 8 families where both parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities were identified. One marker chromosome was missed by karyotyping analysis, and a mother was confirmed to carry a cryptic balanced translocation by FISH.@*CONCLUSION@#NGS can facilitate detection of cryptic chromosomal translocations in couples with repeated pregnancy failure and is of great value for detecting abnormal CNVs for its high sensitivity.

Deletion of marker gene in transgenic goat by Cre/LoxP system / 生物工程学报

In producing transgenic livestock, selectable marker genes (SMGs) are usually used to screen transgenic cells from numerous normal cells. That results in SMGs integrating into the genome and transmitting to offspring. In fact, SMGs could dramatically affect gene regulation at integration sites and also make the safety evaluation of transgenic animals complicated. In order to determine the deletion time and methods in the process of producing transgenic goats, the feasibility of deleting SMGs was explored by Cre/LoxP before or after somatic cell cloning. In addition, we compared the efficiency of protein transduction with plasmids co-transduction. We could delete 43.9% SMGs after screening out the transgenic cell clones, but these cells could not be applied to somatic cells cloning because of serious aging after two gene modifications. The SMG-free cells suitable for nuclear transfer were accessible by using the cells of transgenic goats, but this approach was more time consuming. Finally, we found that the Cre plasmid could delete SMGs with an efficiency of 7.81%, but about 30% in SMG-free cells had sequences of Cre plasmid. Compared with Cre plasmid, the integration of new exogenous gene could be avoided by TAT-CRE protein transduction, and the deletion rate of TAT-CRE transduction was between 43.9 and 72.8%. Therefore, TAT-Cre transduction could be an effective method for deleting selectable marker genes.

Clinical evaluation of two tooth preparation methods of metal-porcelain restoration / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To evaluate the clinical performance of the two configurations of gingival margin preparation of tooth.</p><p><b>METHODS</b>The cases in this study were divided into two groups according to different tooth defects. Each group consisted of 40 cases. One group's gingival margin configuration was 90 degree shoulder, the other was under-gingival non-shoulder. The clinical performance of these restorations was followed up for 1 year and 2 years. The evaluators examined the restorations for plaque index, gingival index, marginal discolor and marginal fit.</p><p><b>RESULTS</b>There was no significant difference in the evaluators between the two groups.</p><p><b>CONCLUSION</b>The under-gingival non-shoulder margin configuration of porcelain fused to metal should be used for clinical application compared with the 90 degree shoulder one in certain circumstance.</p>