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综合应用分子细胞遗传学技术检测一例染色体微小易位

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中华医学遗传学杂志 2011年第5期28卷 568-571页

作者：谢英俊陈宝江吴坚柱陈争林少宾方群中山大学附属第一医院妇产科胎儿医学中心广州510080 中山医学院医学遗传学研究室

目的综合应用分子细胞遗传学技术对1例染色体微小易位的病例进行检测。方法按常规制备染色体，G显带进行核型分析，并先后进行光谱核型分析（spectral karyotyping，SKY），染色体涂染，双色荧光原位杂交技术（fluorescence insitu hybr... 详细信息

目的综合应用分子细胞遗传学技术对1例染色体微小易位的病例进行检测。方法按常规制备染色体，G显带进行核型分析，并先后进行光谱核型分析（spectral karyotyping，SKY），染色体涂染，双色荧光原位杂交技术（fluorescence insitu hybridisation，FISH）检测，亚端粒探针FISH检测。结果常规G显带染色体核型为46，XX，？（22q11．3），SKY核型分析结果：46，XX，der（4）t（4；6），未发现22号染色体异常，染色体涂染未发现6号染色体信号异常。双色FISH提示其中1个22号染色体22q13．3片段易位到另外1条4号染色体短臂末端。亚端粒探针FISH显示22号染色体长臂末端和4号染色体短臂末端的相互易位。综合上述结果结合染色体高分辨分析，得出染色体核型为：46，XX，t（4；22）（p15．3；q13．2）。结论对于染色体微小易位的病例，应结合相关临床信息综合应用分子细胞遗传学技术以提高该类染色体病的诊断准确度。

关键词：染色体易位荧光原位杂交光谱核型分析

超声软指标在筛查胎儿21三体综合征中的应用

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中华妇产科杂志 2013年第2期48卷 81-85页

作者：石晓梅方群陈宝江谢红宁谢英俊陈筠虹吴坚柱中山大学附属第一医院胎儿医学中心广州510080 中山大学附属第一医院超声科

目的探讨超声软指标在筛查胎儿21三体综合征中的应用价值。方法回顾性分析2001年1月至2011年12月就诊于中山大学附属第一医院的138例介入性产前诊断确诊为21三体综合征胎儿的超声检查结果，根据检出超声软指标是否伴有“结构畸形或其他... 详细信息

目的探讨超声软指标在筛查胎儿21三体综合征中的应用价值。方法回顾性分析2001年1月至2011年12月就诊于中山大学附属第一医院的138例介入性产前诊断确诊为21三体综合征胎儿的超声检查结果，根据检出超声软指标是否伴有“结构畸形或其他异常”，分作孤立性软指标、复杂性软指标及单纯结构畸形或其他异常。分析出现超声软指标、结构畸形或其他异常与21三体综合征的关系。结果138例21三体胎儿中，132例（95．7％，132／138）超声检查结果阳性，包括检出超声软指标、结构畸形或其他异常；其中120例（87．0％，120／138）检出软指标，检出1项软指标者38例（31．7％，38／120），≥2项软指标82例（68．3％，82／120），两者比较，差异有统计学意义（P〈0．01）。复杂性软指标的出现率为50．0％（69／138），而孤立性软指标为37．0％（51／138），两者比较，差异有统计学意义（P〈0．05）；仅8．7％（12／138）为单纯结构畸形或其他异常。最常见的妊娠早期超声软指标为颈部透明层增厚（95％，19／20）和鼻骨发育异常（55％，11／20）；妊娠中期超声软指标出现的频率依次为：鼻骨发育异常（41．9％，52／124），颈后皮肤皱褶增厚（25．0％，31／124），股骨及肱骨短小（24．2％，30／124），心室内强回声点（16．1％，20／124），脑室轻度扩张（15．3％，19／124）。结构畸形或其他异常以心血管系统（33．1％，41／124）最常见，消化系统（26．6％，33／124）次之。结论超声软指标在筛查21三体胎儿中具有重要作用。21三体胎儿常出现多个超声软指标或软指标与结构畸形或其他异常共同出现。

关键词：唐氏综合征超声检查,产前血清学试验

Huntingtin expression stimulates the expression and redistribution of Beclinl

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Huntingtin expression stimulates the expression and redistri...

Y染色体AZFc区域部分缺失与精神发育迟滞伴小阴茎关联性分析

中国神经科学学会第四次会员代表大会暨第七届全国学术会议

作者： fang LIN,Xin chen,jun-Chao wu,Yu-Feng xie,Zhen-Lun GU,Zheng-Hong QIN~* Department of Pharmacology,Laboratory of Aging and Nervous Diseases,Soochow University School of Medicine, Suzhou 215123,China

＜正＞Huntington’s disease（HD） is a neurodegenerative disorder characterized by a triad of symptoms,including involuntary choreiform movements,psychiatric disturbance,cognitive impairment and behavioral *** is caused by an expansion of a trinucleotide（CAG） repeat encoding a polyglutamine tract in the N terminal of huntingtin （Htt）.A neuropathological hallmark in human HD and mouse models is the intracellular accumulation and aggregation of N-terminal Htt fragments,suggesting that aberrant Htt proteolysis and/or dysfunctional clearance of Htt fragments may underlie the neuropathology in *** is cleaved by caspase3 in vivo at the caspase consensus sites at amino acid 552 and *** enhance transfection rate of htt,we constructed an adenovirus expression *** expressed wild-type htt552-18Q and mutant htt552-100Q in PC 12 cells with adenovirus-Htt-18Q-552aa and adenovirus-100Q-552 *** adenovirus -null was used as a *** activation of autophagy was assessed with Monodansylcadaverine（MDC） staining. The results showed that accumulation of MDC in PC 12 was induced by both wild type and mutant ***,expression of mutant htt produced more autophagic vacuoles than that wild type ***1 play a role in autophagic vesicle *** results showed that Beclin 1 was distributed in both the cytoplasm and the nucleus. Expression of both wild type htt and mutant htt stimulated the expression of Beclin1 in the cytosol,but reduced nuclear beclin ***,expression of mutant htt had greater effect on lowering nuclear levels of beclin *** results suggest that overexpression of N-terminal htt can activate *** can stimulate nuclear export of Beclin 1 to facilitate autophagic process.

关键词： Huntingtin(Htt) beclin1 autophagy

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中国循证儿科杂志 2015年第4期10卷 260-264页

作者：王珺刘芳谢华吴欣洁金春华陈晓丽首都儿科研究所神经科北京100020 首都儿科研究所分子免疫实验室北京100020 华联(Phalanx)生物科技公司北京100101 首都儿科研究所儿童保健科北京100020

目的采用基因芯片技术筛查精神发育迟滞伴小阴茎男童的基因组微失衡,探讨Y染色体无精子症因子C区(AZFc)部分缺失对其的致病性。方法提取1例精神发育迟滞伴小阴茎男童(先证者)及其父亲外周血DNA,利用Cyto One Array染色体芯片行全基因组... 详细信息

目的采用基因芯片技术筛查精神发育迟滞伴小阴茎男童的基因组微失衡,探讨Y染色体无精子症因子C区(AZFc)部分缺失对其的致病性。方法提取1例精神发育迟滞伴小阴茎男童(先证者)及其父亲外周血DNA,利用Cyto One Array染色体芯片行全基因组微失衡初筛,之后采用定制4×180K SNP+CNV精神发育相关芯片行全基因组微失衡筛查。选择特异性STS标签s Y1191,s Y1291作为引物,利用PCR特异性扩增11例正常男童,9/20例4×180K SNP+CNV芯片检测异常的精神发育迟滞未伴小阴茎男童,先证者及其父亲的Y染色体AZFc区域。进一步对170例精神发育迟滞未伴小阴茎男童行PCR扩增,分析AZFc区域缺失频率。结果 1Cyto One Array染色体芯片检测发现先证者存在AZFc区域全缺失(chr Y:24646690-28103711),定制4×180K SNP+CNV精神发育相关芯片排除其他精神发育相关基因组微失衡,发现AZFc区域部分缺失(chr Y:24873066-25203027;chr Y:25850255-26245019),结果不同于Cyto One Array染色体芯片。220例精神发育迟滞伴小阴茎男童行4×180K CNV+SNP芯片检测,5例存在Y染色体AZFc区域部分缺失,但缺失起止点不同;4例为已知的致精神发育异常的基因组微失衡。3PCR验证表明先证者及其父亲为AZFc区域b2/b3缺失,此片段缺失同时存在于1/11例正常男童、4/9例精神发育迟滞未伴小阴茎男童。4精神发育迟滞未伴小阴茎男童AZFc区域b2/b3缺失频率为15.1%(27/179)。结论 AZFc区域b2/b3缺失可能不是精神发育迟滞伴小阴茎男童的致病病因,此AZFc区域部分缺失在中国人群中为多态性位点。

关键词：精神发育迟滞 AZFc区域部分缺失多态性位点基因芯片技术

2940 nm点阵激光联合米诺地尔对小鼠雄激素性脱发的治疗效果及其作用机制

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武汉大学学报（医学版） 2023年第1期44卷 59-64页

作者：陈婷方蕊馨罗娜谢君吴雪菁子宋继权武汉大学中南医院皮肤科湖北武汉430071

目的:明确2940 nm点阵激光联合米诺地尔对小鼠雄激素性脱发的改善效果及相关作用机制。方法:将70只C57BL/6小鼠随机分为7组,包括空白组(K组)、模型组(M组)及5个治疗组(T1~T5组),各组分别给予米诺地尔(T1)、100 mJ激光(T2)、200 mJ激光(... 详细信息

目的:明确2940 nm点阵激光联合米诺地尔对小鼠雄激素性脱发的改善效果及相关作用机制。方法:将70只C57BL/6小鼠随机分为7组,包括空白组(K组)、模型组(M组)及5个治疗组(T1~T5组),各组分别给予米诺地尔(T1)、100 mJ激光(T2)、200 mJ激光(T3)、100 mJ激光+米诺地尔(T4)、200 mJ激光+米诺地尔(T5)处理。除空白组外,其余各组小鼠背部给予丙酸睾酮溶液注射建立小鼠雄激素性脱发模型并按要求进行对应处理。对各组小鼠背部皮肤毛囊总数目、终毛毛囊数目和毳毛毛囊数目进行计数,同时计算终毛样毛囊/毳毛样毛囊比值。测定小鼠背部皮肤组织中血管内皮生长因子(VEGF)、转化生长因子β1(TGF⁃β1)的表达量。结果:与造模组及其他4个治疗组相比,T4组小鼠背部毛发覆盖广泛,且总毛囊数目、终毛毛囊数目显著增加(P0.05),T2组VEGF表达量较低(P<0.05),T1组TGF⁃β1表达量低于T4组,其他3个治疗组的TGF⁃β1表达量均高于T4组(P<0.01)。结论:2940 nm点阵激光联合米诺地尔对C57BL/6小鼠雄激素性脱发模型有改善作用,其作用机制主要为升高小鼠背部VEGF表达量及降低TGF⁃β1表达量,同时2940 nm点阵激光通过对浅表皮肤的直接烧蚀、光机械波的光击穿和光热效应,增强米诺地尔的透皮吸收,从而达到治疗雄激素性脱发的作用。

关键词：雄激素性脱发点阵激光米诺地尔血管内皮生长因子转化生长因子⁃β1

The heterogeneity of islet autoantibodies and the progression of islet failure in type 1 diabetic patients

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Science China(Life Sciences) 2016年第9期59卷 930-939,938-939+932-937页

作者： Jin Liu Lingling Bian Li Ji Yang chen Heng chen Yong Gu Bingqin Ma Wei Gu Xinyu Xu Yun Shi Jian wang Dalong Zhu Zilin Sun Jianhua Ma Hui Jin Xing Shi Heng Miao Bing Xin Yan Zhu Zhenwen Zhang Ruifang Bu Lan Xu Guangde Shi Wei Tang Wei Li Dongmei Zhou jun Liang Xingbo cheng Bimin Shi Jixiang Dong Ji Hu chen fang Shao Zhong Weinan Yu Weiping Lu chenguang wu Li Qian Jiancheng Yu Jialin Gao Xiaoqiang Fei Qingqing Zhang Xueqin wang Shiwei Cui Jinluo cheng Ning Xu Guofeng wang Guoqing Han Chunrong Xu Yun xie Minmin An Wei Zhang Zhixiao wang Yun Cai Qi Fu Yu Fu Shuai Zheng Fan Yang Qingfang Hu Hao Dai Yu Jin Zheng Zhang Kuanfeng Xu Yifan Li Jie Shen Hongwen Zhou Wei He Xuqin Zheng Xiao Han Liping Yu Jinxiong She Mei Zhang Tao Yang Department of Endocrinology and Metabolism First Affiliated Hospital of Nanjing Medical University Nanjing 210029 China Barbara Davis Center for Childhood Diabetes University of Colorado Denver Aurora Colorado 80045 USA Key Laboratory of Human Functional Genomics of Jiangsu Province Nanjing Medical University Nanjing 210000 China Department of Isotopic Laboratory of Nanjing Medical University Nanjing 210000 China HLA Laboratory of Jiangsu Province People's Hospital Nanjing 210029 China Department of Endocrinology and Metabolism Nanjing General Hospital of Nanjing Military Command Nanjing 210002 China Department of Endocrinology and Metabolism Nanjing Drum Tower Hospital The Affiliated Hospital of Nanjing University Medical School Nanjing 210008 China Department of Endocrinology and Metabolism Zhongda Hospital Southeast University Nanjing 210009 China Department of Endocrinology and Metabolism Nanjing First Hospital Nanjing 210000 China Department of Endocrinology and Metabolism Nanjing Children's Hospital Nanfing 210008 China Department of Endocrinology and Metabolism The Second Affiliated Hospital of Nanjing Medical University Nanjing 210011 China Department of Endocrinology and Metabolism Nanjing Governmental Hospital Nanjing 210008 China Department of Endocrinology and Metabolism Northern Jiangsu People's Hospital Yangzhou 225001 China Department of Endocrinology and Metabolism Wuxi People's Hospital Wuxi 214023 China Department of Endocrinology and Metabolism Jiangsu Jiangyin People's Hospital Wuxi 214400 China Department of Endocrinology and Metabolism The Affiliated Hospital of Xuzhou Medical College Xuzhou 221006 China Department of Endocrinology and Metabolism Xuzhou Central Hospital Xuzhou 221009 China Department of Endocrinology and Metabolism The First Affiliated Hospital of Soochow University Suzhou 215006 China Department of Endocrinology and Metabolism The Second Affiliated Hospital of Soochow University Suzhou 215004 China Department of Endocri

Type 1 diabetes mellitus is heterogeneous in many facets. The patients suffered from type 1 diabetes present several levels of islet function as well as variable number and type of islet-specific autoantibodies. This study was to investigate prevalence and heterogeneity of the islet autoantibodies and clinical phenotypes of type 1 diabetes mellitus; and also discussed the process of islet failure and its risk factors in Chinese type 1 diabetic patients. A total of 1,291 type 1 diabetic patients were enrolled in this study. Demographic information was collected. Laboratory tests including mixed-meal tolerance test, human leukocyte antigen alleles, hemoglobin A1 c, lipids, thyroid function and islet autoantibodies were conducted. The frequency of islet-specific autoantibody in newly diagnosed T1 DM patients(duration shorter than half year) was 73% in East China. According to binary logistic regressions, autoantibody positivity, longer duration and lower Body Mass Index were the risk factors of islet failure. As the disease developed, autoantibodies against glutamic acid decarboxylase declined as well as the other two autoantibodies against zinc transporter 8 and islet antigen 2. The decrease of autoantibodies was positively correlated with aggressive beta cell destruction. Autoantibodies can facilitate the identification of classic T1 DM from other subtypes and predict the progression of islet failure. As there were obvious heterogeneity in autoantibodies and clinical manifestation in different phenotypes of the disease, we should take more factors into consideration when identifying type 1 diabetes mellitus.

关键词： autoantibodies heterogeneity islet failure type 1 diabetes

Exploration on medication patterns of “External Treatment” in the ancient Chinese medical book Liu Juanzi Guiyi fang

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Drug Combination Therapy 2020年第4期2卷 198-207页

作者： Qiang Lin jun-Lin Mo Ji-Wei Qiu Jue-Ying chen Yong-Xiang xie The First Affiliated Hospital of Guangxi University of Chinese Medicine Guangxi NanningChina Guangxi University of Chinese Medicine NanningChina

Background:To obtain the medication patterns of“External Treatment”by analyzing the prescriptions for the“External Treatment”in a Chinese ancient book called Liu Juanzi Guiyi fang(Liu Juanzi’Ghost-Bequeathed Prescriptions,written by Liu Juanzi in 499 C.E.).Methods:The prescriptions for“External Treatment”and primary traditional Chinese medicines in Liu Juanzi’Ghost-Bequeathed Prescriptions were analyzed using data mining methods,such as frequency analysis and cluster analysis,after screening for prescriptions related to“External Treatment”in Liu Juanzi’Ghost-Bequeathed *** Database of Prescriptions for External Treatment in Liu Juanzi Guiyi fang was then ***:The earliest Chinese characters for“Yin”and“Yang”were found on“oracle bones”.These bones were the skeletal remains of different animals,and were used in ancient Chinese divination practices going all the way back to the 14th century *** put,“Yin”is the cold and“Yang”is the *** traditional Chinese medicine,this concept of dualism and its fundamental principle underlie physiology,pathology,and the treatment of ***“External Treatment”discussed in Liu Juanzi’Ghost-Bequeathed Prescriptions primarily adopts the methods of“Warming Yang”,“Cooling Heat(Yang)”,and“Qu xie(dispelling pathogenic factors of epidemic diseases)”,as well as“Huo Xue(promoting blood circulation)and promoting tissue *** Chinese medicine,“Si Qi(cold as winter,cool as autumn,warm as spring,hot as summer)”,“wu Wei(five flavors:sweet,pungent,salty,sour,and bitter)”used to describe the properties of *** Liu Juanzi’Ghost-Bequeathed Prescriptions,most of the medicines used were more“Sweet”,“Pungent”,“Warm”,and the“Channel Tropism”were primarily distribute to the“Liver”,“Heart”,“Stomach”,and“Large intestine meridian”.Conclusion:The data mining method systematically summarized the medication characteristics of the prescriptions for“External Treatment”in Liu Juanzi’Ghost-Bequeathed Prescript

关键词： Cluster analysis External Treatment Frequency analysis Liu Juanzi Guiyi fang Medication patterns

Chinese Consensus on Diagnosis and Treatment of Hepatic Encephalopathy

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国际感染病学（电子版） 2012年第3期1卷 151-176页

作者： Xin-yue chen jun cheng fang-ling Duan Jian-gao Fan Xiao-ling Fan Li-min Guo Ming-zhou Guo Tao Han Jing-yuan Liu Xiong Ma Wei Shen Shi-guang Feng Xian-bo wang Yun wu Wen xie Yao xie Hui-chun Xing Ping-geYuan Yong-ping Yang Fu-kui Zhang Institute of Infectious Diseases Beijing Ditan HospitalCapital Medical University

Hepatic encephalopathy(HE)is a complex,neuropsychiatric abnormality that occurs as a consequence of metabolic disorders in patients with hepatic *** pathogenesis is complex with a strong prognosticator of *** standardize the clinical management of HE,relevant new data were reviewed and assessed by Chinese Committee of Experts on Hepatic Encephalopathy in China and was discussed and debated *** the consensus on the management of HE was *** final recommendations are based on the data available at the time of production of the document and may be updated with pertinent scientific developments at a later *** the discussion was organized by the editorial board of Chinese Journal of Experimental and Clinical Infectious Diseases(Electronic Edition),Chinese Journal of Liver Diseases(Electronic Edition)and Infection International(Electronic Edition).The evidence gradings in the consensus are listed in Table1.

关键词： encephalopathy consensus ammonia Infection editorial discussion assessed listed cirrhosis document

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茶叶籽饼粕中茶皂素提取工艺研究

食品科学 2008年第9期29卷 230-233页

作者：王武方红美刘京生沈君臣谢慧明合肥工业大学生物与食品工程学院安徽合肥230009 合肥工业大学农产品生物化工教育部工程研究中心安徽合肥230009

本实验研究了茶叶籽饼粕中茶皂素的浸出工艺。在分析比较不同提取溶剂提取能力的基础上,选择95%乙醇为浸出溶剂,考察了浸提温度、浸提时间、液料比和茶叶籽饼粕粉碎粒度等因素对茶皂素得率的影响。正交试验结果表明,茶皂素提取的较优工... 详细信息

本实验研究了茶叶籽饼粕中茶皂素的浸出工艺。在分析比较不同提取溶剂提取能力的基础上,选择95%乙醇为浸出溶剂,考察了浸提温度、浸提时间、液料比和茶叶籽饼粕粉碎粒度等因素对茶皂素得率的影响。正交试验结果表明,茶皂素提取的较优工艺条件为浸提温度60℃、浸提时间2h、液料比13:1、粒度40目,此时茶皂素得率为8.85%,粗产品茶皂素纯度为54.2%。

关键词：茶叶籽饼粕茶皂素浸提工艺乙醇