【摘要】 目的 探讨宫颈上皮内瘤变（CIN）和宫颈鳞癌（SCC）组织中人类染色体端粒酶基因（hTERC）的表达和临床意义。 方法 收集2007年10月-2009年6月经病理学证实的116例宫颈脱落细胞标本，其中LSIL（CINⅠ）30例、HSIL（CINⅡ/Ⅲ）37例、SCC 16例、宫颈炎33例，用荧光原位杂交（FISH）方法检测脱落细胞hTERC基因。 结果 在宫颈炎、LSIL、HSIL和SCC组中hTERC基因的表达率分别是6.1%、16.7%、51.4%和93.8%，其中，HSIL、SCC组与宫颈炎组比较，hTERC基因阳性率差异有统计学意义（Plt;0.05），LSIL组与HSIL组比较、LSIL组与SCC组比较、HSIL组与SCC组比较，差异有统计学意义（Plt;0.05），且随着病变程度增加，hTERC基因表达率增加。 结论 hTERC基因在细胞学LSIL、HSIL和SCC中表达异常，且随病变程度增加阳性表达率也增加，可作为宫颈癌癌前病变进展的生物遗传学监测指标，并有望成为宫颈癌早期筛查方法之一。【Abstract】 Objective To explore the clinical significance and expression of the human telomerase gene (hTERC) in the cervical intraepithelial neoplasia (CIN) and squamous carcinoma of the cervix (SCC). Methods According to histological biopsy from October 2007 to June 2009, 116 pap smears were divided into LSIL (n=30), HSIL (n=37), SCC (n=16), and cervicitis (n=33) groups. Fluorescence in situ hybridization (FISH) was used to detect the expression of hTERC. Results Positive expression rate of hTERC was 6.1% in cervicitis group, 16.7% in LSIL group, 51.4% in HSIL group, and 93.8% in SCC group, respectively. Compared to cervicitis group, the expression of hTERC in HSIL and SCC groups was significantly higher (Plt;0.05). Among LSIL, HSIL, and SCC groups, there were significant differencec in hTERC expression between every two groups (Plt;0.05). From LSIL to SCC, the expression of hTERC increased obviously. Conclusion Abnormal expression of hTERC exists in LSIL, HSIL, and SCC patients, which significantly increases during malignant development. It may be a biogenetics monitor index of cervical precancerosis and will be a screening marker for cervical cancer.
Objective To detect and analyse the mutations in rhodopsin gene of members in a family affected by autosomal dominant retinitis pigmentosa (ADRP). Methods Using the polymerase chain reaction (PCR), we amplified exon 1-5 of rhodopsin gene in patients with ADRP,and analyzed it with direct sequence measuement. Results The Gly-182-Asp mutation in the rhodopsin gene was detected in most of affected members of this ADRP family, but no mutation was detected in two affected members and the control ones. Conclusion We cannot regard the Gly-182-Asp mutation in the rhodopsin gene as the pathagenic factor of the ADRP family. It is likely there is a new gene next to the rhodopsin gene. (Chin J Ocul Fundus Dis, 2002, 18: 256-258)
【Abstract】ObjectiveTo study the current research status of minichromosome maintenance protein 2 (MCM2), the cell cycle proliferation marker, in the diagnosis of colorectal carcinoma. MethodsLiteratures about the application of MCM2 in the study of colorectal carcinoma were collected and reviewed.ResultsMCM2, as a marker of cell dysplasia and malignancy, was usually used in the study of carcinoma. The study on expression of MCM2 in the cell of colorectum in different proliferational stage might help to screen colorectal carcinoma as early as possible. ConclusionAs a relatively specific and sensitive marker of cell proliferation, MCM2 might become a promising mark for diagnosing colorectal carcinoma in the early stage.
Objective To investigate the expressions of X-linked inhibitor of apoptosis protein （XIAP） and survivin in primary hepatocellular carcinoma tissues，and to explore the relationship between them. Methods The expressions of XIAP and survivin protein in 38 primary hepatocellular carcinoma tissues and 16 paracancerous tissues were detected by using immunohistochemistry and the expressions were scored. Results The positive expression rate of XIAP and survivin in primary hepatocellular carcinoma tissues was 81.6% （31/38）and 78.9% （30/38），respctively （P＜0.001）， and in paracancerous tissues was 12.5% （2/16）and 6.3% （1/16）， respectively （P＜0.001）. The score of XIAP expression in the well， middle，and low differentiated tissues of primary hepatocellular carcinoma was （2.91±1.31），（9.27±3.25）， and （13.08±2.26） score， respectively （F=118.948，P＜0.001）， and the score of survivin expression was （4.85±1.83）， （11.08±3.72），and （13.38±1.76） score， respectively （F=72.202，P＜0.001）. They both significantly correlated with the histological grade，but not with the size of tumor（P＞0.05）. There was significantly correlation between the expression intensity of XIAP and survivin in primary hepatocellular carcinoma tissues （r=0.764， P＜0.001）. Conclusions The expression intensity of XIAP and survivin in primary hepatocellular carcinoma tissues are both related with the differentiation of primary hepatocellular carcinoma. The expression intensity of XIAP is related with the survivin， and they may play an important role in the tumor progression and chemical resistances.
ObjectiveTo analyze the prenatal screening data of Longquanyi district, and evaluate the effect of prenatal screening technology in birth defects prevention. MethodsA total of 10230 serum samples in Chengdu Longquanyi District Prenatal Screening Center from November 2010 to December 2012 were tested and analyzed, and the risk rates of Down's Syndrome, Trisomy 18 Syndrome and Open Neural Tube Defects (ONTDs) were obtained by Risk2T risk calculation software. The results of prenatal screening were verified and evaluated by high risk referral, pregnancy tracing and pregnancy outcome follow-up. ResultsIn the 10 230 pregnant women, the positive rate of Down's Syndrome was 6.02%, Trisomy 18 Syndrome was 0.42% and Open Neural Tube Defects was 0.57%, and compliance rate of prenatal diagnosis was 51.56%. In the 57 high risk pregnant women of ONTDs, 53 women selected system color doppler ultrasound with a proportion of 92.98%, but in the 647 high risk pregnant women of Down's or Trisomy 18 Syndrome, only 47.30% of them chose amniocentesis for diagnosis. The χ2 analysis showed that the difference was significant compared between system color doppler ultrasound and amniocentesis group (P<0.05). By diagnosis, 3 Down's Syndrome patients were found. ConclusionSecond trimester maternal serum prenatal screening plays an important role in birth defects prevention in Longquanyi district. However, there is a great need to improve compliance rate of prenatal diagnosis of Down's and Trisomy 18 Syndrome.
Objective To investigate the expression of phosphate and tension homology deleted on chromsome ten (PTEN) and Basigin1, as well as their relationships with clinicopathological factors and molecular subtypes in invasive ductal carcinoma of breast. Methods The expressions of PTEN and Basigin1 protein were examined in 76 invasive ductal carcinoma of breast tissues by immunohistochemical method, and 20 breast benign hyperplasia tissues as control. These 76 patients underwent surgery in our hospital from Jan. 2014 to Dec. 2015. Results The high-expression rate of PTEN protein in invasive ductal carcinoma of breast tissues was lower than that in benign hyperplasia tissues [56.6% (43/76) vs. 85.0% (17/20), χ2=5.457, P=0.019], while the high-expression rate of Basigin1 protein was higher than that of the benign hyperplasia tissues [51.3% (39/76) vs 25.0% (5/20), χ2=4.417, P=0.036]. The high-expression of PTEN protein was positively correlated with WHO grade and lymph node metastasis status (P<0.05). The high-expression of Basigin1 protein was positively correlated with WHO grade, lymph node metastasis status, and TNM stage (P<0.05). In addition, the high-expression of PTEN protein was associated with molecular subtypes of breast cancer (P<0.001), and its high-expression rate was higher in Luminal A and Luminal B patients; the high-expression of Basigin1 protein was associated with molecular subtypes of breast cancer too (P<0.001), and the high-expression rate of Basigin1 protein was higher in Her-2 overexpression and basal-like subtypes of breast cancer patients. Spearman correlation analysis shown that expression of PTEN protein was negatively correlated with expression of Basigin1 protein (rs=–0.481, P<0.001). Conclusion PTEN and Basigin1 protein may have some mechanisms to promote the occurrence and development of breast cancer, which provide a new basis for targeted treatment of breast cancer.