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中国兽医杂志 2016年第6期52卷 19-21,I0001页

作者：张嘉陈美珍林旋温福利陈仁锋胡玲英王寿昆福建农林大学动物科学学院福建福州350002 福建省动物药物工程实验室福建福州350002 南京军区福州总医院比较医学科福建福州350025

为预防兔球虫病提供依据,采集福州郊区某肉兔场不同日龄肉兔粪便样本587份,采用饱和食盐水漂浮法和麦克马斯特计数法对该场兔球虫感染率、OPG值、球虫卵囊在兔群中的分布、球虫种类及优势种等进行调查分析。调查结果显示,该场兔球虫平... 详细信息

为预防兔球虫病提供依据,采集福州郊区某肉兔场不同日龄肉兔粪便样本587份,采用饱和食盐水漂浮法和麦克马斯特计数法对该场兔球虫感染率、OPG值、球虫卵囊在兔群中的分布、球虫种类及优势种等进行调查分析。调查结果显示,该场兔球虫平均感染率为85.86%,平均OPG值为11 865,个体OPG最高达466 000;OPG值在兔群中呈负二项分布。调查共检测出13种艾美耳球虫,均为混合感染,以纳格浦尔艾美耳球虫(***)、穿孔艾美耳球虫(***)、大型艾美耳球虫(***)和盲肠艾美耳球虫(***)为优势种。

关键词：兔球虫病感染率 OPG值麦克马斯特计数法

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不同转移潜能肝癌细胞在不同干预条件下摄取FDG的实验研究

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胃肠病学和肝病学杂志 2011年第1期20卷 32-35页

作者：李天然田嘉禾何婷婷郭海瑜刘健陈英茂张锦明王卉南京军区福州总医院九五临床部放射科福建莆田351100 解放军总医院核医学科

目的从细胞学角度研究不同转移潜能肝癌细胞摄取FDG的差异,观察FDG区分高低转移潜能肝癌细胞的能力。方法两株不同转移潜能的肝癌细胞(MHCC97-H和MHCC97-L)与FDG行细胞结合实验,以及细胞分别在葡萄糖、胰岛素和5-氟尿嘧啶干预下与FDG行... 详细信息

目的从细胞学角度研究不同转移潜能肝癌细胞摄取FDG的差异,观察FDG区分高低转移潜能肝癌细胞的能力。方法两株不同转移潜能的肝癌细胞(MHCC97-H和MHCC97-L)与FDG行细胞结合实验,以及细胞分别在葡萄糖、胰岛素和5-氟尿嘧啶干预下与FDG行细胞结合实验,计算FDG摄取率。Western blot法检测2种肿瘤细胞中Glut1、Glut3、Ki-67、OPN的含量表达,对灰度值(IOD)进行半定量分析。结果高、低转移潜能肝癌细胞对FDG摄取率差异无统计学意义(P>0.05);在葡萄糖、胰岛素干预下,高、低不同转移特性肝癌细胞FDG摄取率差异有统计学意义(P<0.05);5-氟尿嘧啶干预下,两株细胞FDG摄取率无差异(P>0.05)。FDG摄取相关指标Glut1和Glut3、肝癌增殖性指标Ki-67、转移相关因子OPN在MHCC97-H中表达高于MHCC97-L。结论单纯FDG尚不能区分具有高低转移潜能的肝癌细胞,在不同条件的干预下FDG可以对高低转移潜能的肝癌细胞做出有意义的区分,葡萄糖和胰岛素对两种细胞摄取FDG的影响程度不同。

关键词：肝细胞癌转移 18-氟代脱氧葡萄糖胰岛素葡萄糖

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家族性腺瘤性息肉病研究进展

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国际遗传学杂志 2014年第2期37卷 82-88页

作者：张敏兰风华福建医科大学福州临床医学院(南京军区福州总医院)遗传病分子诊断中心

家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)以结直肠内生长成百上千枚息肉为主要特征,不进行治疗的患者几乎100%发展成大肠癌,主要由腺瘤性息肉病基因(adenomatous polyposis coli,APC)突变所致,越来越多学者发现APC基因... 详细信息

家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)以结直肠内生长成百上千枚息肉为主要特征,不进行治疗的患者几乎100%发展成大肠癌,主要由腺瘤性息肉病基因(adenomatous polyposis coli,APC)突变所致,越来越多学者发现APC基因突变位点和FAP临床表现具有一定相关性。本文将从FAP的分型、临床表现、诊断标准、致病基因APC、基因-表型相关性及治疗监测等方面作一综述。

关键词：家族性腺瘤性息肉病 APC基因突变热点基因-表型相关性

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高低转移潜能肝癌细胞摄取FDG初步基础研究

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医学研究杂志 2011年第10期40卷 28-31页

作者：李天然田嘉禾何婷婷郭海瑜刘健南京军区福州总医院九五临床部放射科莆田351100 解放军总医院核医学科北京100853

目的肝细胞癌的转移潜能是肝癌生物学特性的体现,本研究从细胞学角度研究不同转移潜能肝癌细胞摄取FDG的能力,及观察肝癌细胞FDG吸收量和流出量随时间的变化。方法两株不同转移潜能的肝癌细胞(MHCC97-H和MHCC97-L)与FDG行细胞结合实验,... 详细信息

目的肝细胞癌的转移潜能是肝癌生物学特性的体现,本研究从细胞学角度研究不同转移潜能肝癌细胞摄取FDG的能力,及观察肝癌细胞FDG吸收量和流出量随时间的变化。方法两株不同转移潜能的肝癌细胞(MHCC97-H和MHCC97-L)与FDG行细胞结合实验,观察不同转移潜能细胞之间对FDG摄取能力的差异,分析不同转移潜能肝癌FDG摄取的规律。共同孵育60min洗脱后测定细胞内示踪剂的吸收量和细胞外液的流出量。结果高、低转移潜能肝癌细胞之间对FDG摄取差异无统计学意义(P>0.05),高、低不同转移潜能细胞之间,流出量、吸收量差异有统计学意义(P<0.05),流出量和吸收量存在着明显的相关性(r=0.896,P<0.05)。FDG摄取相关指标Glut1和Glut3在高转移细胞株中表达高于低转移细胞株。结论两株肝癌细胞对FDG摄取是肝癌不同转移潜能的具体体现,与Glut1、Glut3表达存在不同的相关性。

关键词：肝细胞癌转移 18-氟代脱氧葡萄糖

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Diagnostic value of sperm DNA fragmentation for predicting outcome of assisted reproduction treatment:A Meta-analysis study

Diagnostic value of sperm DNA fragmentation for predicting o...

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第十四次全国医学遗传学学术会议

作者：范翠花张朵崔兆磊陈良远杨文静刘耀华兰风华南京军区福州总医院临床遗传与实验医学科

Objective:To examine whether sperm DNA fragmentation has the predictive value for ART outcomes of IVF/***:An exhaustive electronic literature search was conducted on PubMed,Embase and CNKI databases from database inception to *** basis of quality assessment for studies of diagnostic accuracy(QUADAS)criteria was used to assess quality of the *** bivariate meta-analysis was performed in a random-effects model using sensitivity,specificity,summary receiver operator characteristic(SROC)curves,area under the curve(AUC),and 95%Cls as effect *** was measured using the Cochran'sQ *** bias and subgroup analysis were also conducted through Stata 12.0 ***:A total of 6 studies comprising 13 individuals were eligible to analysis outcomes of assisted reproduction treatment(ART).The bivariate random effects meta-analysis showed that an AUC value was 0.6844(sensitivity 0.53[95%CI 0.49 to 0.57];specificity 0.58[95%CI 0.54 to 0.61])for sperm DNA fragmentation assay in predicting ART outcomes after IVF/***,the subgroup analysis suggested that ICSI treatment of sperm DNA fragmentation assay(AUC 0.6974;sensitivity 0.67;specificity 0.63)seemed to obtain higher accuracy than IVF treatment(AUC 0.6589;sensitivity 0.35;specificity0.52)in predicting ART *** was a significant heterogeneity among studies for subgroup ***:The results indicate that assays detecting sperm DNA fragmentation confers a modest prognostic value for predicting outcome in infertile couples undergoing IVF/ICSI *** data also suggest that sperm DNA fragmentation should be recommended to those suffering from recurrent failure to achieve *** of sperm without DNA damage for ART may improve the clinical outcomes of IVF/ICSI.

关键词： sperm DNA fragmentation assisted reproduction treatment diagnostic accuracy criteria meta-analysis

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Low normal or small CGG expansion of FMR1 gene and the risk of phenotypic associations:A systematic review and meta-analysis

Low normal or small CGG expansion of FMR1 gene and the risk ...

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第十四次全国医学遗传学学术会议

作者：杨文静陈良远范翠花崔兆磊白烨兰风华南京军区福州总医院临床遗传与实验医学科

The CGG expansion(5～55)of FMR1(fragile X mental retardation 1)gene was traditional defined as normal ***,different expanded alleles might be associated with a quantity of phenotypic *** systematic review and metaanalysis aimed to investigate the pathological significance with low normal CGG repeat,and the association between small CGG expansion and ovarian *** retrieved9 studies described the association between the low normal CGG repeat and disorder *** these,5 articles manifested low normal CGG repeat had pathological implication and might contribute to terrible *** 13 papers were included in meta-analysis about the association between small CGG repeats and ovarian dysfunction,studies were classified into those including only allelic size with 35～54(n=8,OR=1.22,95%CI 0.75～2.00,P>0.05),45～54(n=7,OR=1.03,95%CI 0.69～1.53,P>0.05),and41～54(n=7,OR=1.77,95%CI 1.22～2.44,P<0.05).4 studies of POF(premature ovarian failure)and 4 studies of POI(Primary ovarian insufficiency)were performed a subgroup analysis in allelic size with 35～54(POF:OR=1.32,95%CI 0.57～3.07,P>0.05/POI:OR=1.21,95%CI 0.55-2.66,P>0.05).All results suggested no significant difference in patients with ovarian dysfunction compared with ***,tendency to negative effects on the phenotype of various disorders were observed in the intermediate alleles range,such as parkinsonism,development *** below and above26～34 CGG repeat are essential for a routine part of carrier testing,especially thosewith phenotypic diseases,it would be extremely valuable for finding the pathogenesis of infertility and providing therapeutic approaches.

关键词： FMR1 gene low normal CGG repeat small CGG expansion phenotypic diseases ovarian dysfunction systematic review meta-analysis

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De novo mutation of EXT1 gene occurring at early embryogenesis leads to mild hereditary multiple osteochondromas

De novo mutation of EXT1 gene occurring at early embryogenes...

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中国的遗传学研究——遗传学进步推动中国西部经济与社会发展——2011年中国遗传学会大会

作者：廖娟王志红周春燕郭小燕兰风华南京军区福州总医院临床遗传与实验医学科

We identified a gonosomal mosaic with a mutation in EXT1,1474475 del TC,occurring de novo in early *** de novo mutation resulted in only a fraction of cells（including chondrocytes） in the body being mutants of EXT1,and in turn led to mild *** finding supports a two-hit model in osteochondromagenesis and illustrates that de novo mutation may be a factor that influences intra-familial and inter-familal variability of osteochondromas.

关键词： de novo mutation multiple osteochondroma gonosomal mosaic embryogenesis

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Bioinformatics analysis of gene expression profiles of dermatomyositis

Bioinformatics analysis of gene expression profiles of derma...

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第十四次全国医学遗传学学术会议

作者：陈良远崔兆磊范翠花杨文静白烨兰风华南京军区福州总医院临床遗传与实验医学科

Dermatomyositis(DM)is an autoimmune inflammatory myopathy(IM)primarily affecting muscle and *** underlying mechanisms of DM remains poorly *** study aimed to explore the change of gene expression profile,investigate the underlying mechanism and identify new targets for *** data GSE48280,including5 DM and 5 normal DM muscle tissue samples were available from Gene Expression ***,differentially expressed genes(DEGs)were screened by Limma package in ***,functional and pathway enrichment analysis were performed using ClueGO from ***,the protein-protein interaction(PPI)network was constructed by STRING and Cytoscape to identify hub *** a result,a total of 180up-regulated and 21 down-regulated genes were *** GO enrichment analysis revealed the type I interferon signaling pathway was the most significant term enriched with the *** the KEGG pathways analysis,we obtained 27 significantly pathways and most of them can be divided into infectious diseases and immune system *** the PPI network constructed,24 hub genes were selected,all of which involved in type I interferon signaling pathway in *** findings supported that type I interferons(IFNs)play a central role for the induction of DM muscle *** addition,the DGEs of CCL5,CXCL10,TLR3,DDX58,IFIH1,ISG15 and Mx1 may be used as potential targets for DM diagnosis and treatment.

关键词： dermatomyositis type Ⅰ interferon bioinformatics analysis the protein-protein interaction network ClueGO

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Exome sequencing revealed a novel splice donor mutation in disease gene of Duchenne muscular dystrophy

Exome sequencing revealed a novel splice donor mutation in d...

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第十二次全国医学遗传学学术会议

作者：林炎鸿邱丽萍郑德柱严爱贞曾健兰风华南京军区福州总医院临床遗传与实验医学科

Backgroud Duchenne muscular dystrophy is the most common and lethal X-linked neuromuscular diseases,which is characterized by progressive muscle weakness and the pseudo hypertrophy of *** typically caused by disrupting the reading frame in the dystrophin gene,approximately 75%of mutational events are represented by deletions or duplications of one or more exons in the dystrophin gene,and the remaining cases by subtle mutations,including point mutations,small indels,small inversion,and complex small *** most cases,subtle mutations has been described that should cause premature termination *** The proband was a 9-year-old boy with typical clinical manifestations of DMD,but without exon deletions or duplications in the dystrophin gene using *** the typical clinical manifestations of the boy,exome sequencing was used in mutation detection of the *** the mutation was confirmed by Sanger *** in order to know the pathogenic mechanism of the mutation,hybrid minigene splicing assay(HMSA) was used to find the effect of the mutation on the alternative splicing of dystrophin gene at the cell *** By the exome sequencing a base change in the first base of intron 50(G>C) of DMD gene was found,and his mother was heterozygosis at the same *** predicted that the 5' donor splicing site of intron 50 disappeared,because of the base change which would alter the C terminal of corresponding peptide,result in the premature termination *** the result of the HMSA coincided with the *** This study demonstrated that exome sequencing combined with HMSA could detect subtle mutations in the dystrophin gene effectively,which added to the system for molecular diagnosis of DMD.

关键词： Duchenne muscular dystrophy exome sequencing splice donor mutation bioinformatics

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Expression of FMR1 gene in human peripheral blood and brain:more splicing isoforms were found

Expression of FMR1 gene in human peripheral blood and brain:...

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第十二次全国医学遗传学学术会议

作者：富显果郑德柱廖娟郭小燕张朵严爱贞兰风华南京军区福州总医院临床遗传与实验医学科

Backgroud Fragile X mental retardation 1 gene(FMR1) is the disease gene of fragile X syndrome(FXS),which has been proved to have several splicing *** T cloning-sequencing was used to analyze RT-PCR products from the FMR1 gene in human peripheral blood and brain *** Three novel alternative splicing products were found in these samples,employing four novel splicing patterns which including an alternative 5'splice site, two alternative 3'splice sites and an exon *** Our research suggested that the alternative splicing of the FMR1 gene is far more complex than those have been understood,but the splicing mechanism and function of the three novel alternative splicing products remain unknown.

关键词： FMR1 Alternative splicing Cloning-sequencing

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