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An Investigation of the Effects of B7-H4 Gene rs10754339 and miR-125a Gene rs12976445 on Cancer Susceptibility

Biomedical and Environmental Sciences 2023年第9期36卷 814-825页

作者： JIN Yu Chen DONG Li Juan YANG Qin Yue XIONG Wei Ning WANG Wei Yi FENG Xian hong YU Wei HUANG Wei CHEN Bi Feng department of Biological Science and Technology School of ChemistryChemical Engineering and Life SciencesWuhan University of TechnologyWuhan 430081HubeiChina department of Biotechnology Institute of WUTAMUWuhan University of TechnologyWuhan 430081HubeiChina department of clinical Laboratory Wuhan Xinzhou District People's HospitalWuhan 430400HubeiChina department of Air Crew service School of Civil AviationWuhan Business and Trade Vocational CollegeWuhan 430062HubeiChina

Objective To investigate the effects of the B7-H4 gene rs10754339 and miR-125a gene rs12976445 on cancer susceptibility through a case-control study and *** A total of 1,490 cancer patients(lung/gastric/liver/:550/460/480)and 800 controls were recruited in this case-control *** meta-analysis was performed by pooling the data from previous related studies and the present *** The results of this study showed that in the Hubei Han Chinese population,the rs10754339gene was significantly associated with the risk of lung and gastric cancer but not liver cancer,and the rs12976445 gene was significantly associated with the risk of lung cancer but not liver or gastric *** meta-analysis results indicated that rs10754339 and rs12976445 contributed to cancer susceptibility in the Chinese population and also revealed a significant association between rs10754339and breast cancer risk,as well as between rs12976445 and lung cancer *** The B7-H4 gene rs10754339 and miR-125a gene rs12976445 may be the potential genetic markers for cancer susceptibility in the Chinese population,which should be validated in future studies with larger sample sizes in other ethnic populations.

关键词： B7-H4 gene miR-125a gene rs10754339 rs12976445 Cancer susceptibility

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clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in china

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Genes & Diseases 2024年第5期11卷 17-20页

作者： Yikun Chen Yan Shi Yuan Gao Yan Hu Linying Zhou Jingmei hong Shirui Gan Xiang Lin Wanjin Chen Guorong Xu Jin He department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of Neuroscienceand Fujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouFujian 350005China Fujian Key Laboratory of Molecular Neurology Institute of NeuroscienceFujian Medical UniversityFuzhouFujian 350005China Electron Microscopy Lab of Public Technology service Center Fujian Medical UniversityFuzhouFujian 350005China

Adult polyglucosan body disease(APBD)is a rare and highly heterogeneous glycogen storage disorder due to biallelic variants in GBE1.1 Typical APBD presentations include gait abnormalities with polyneuropathy,leukodystrophy,neurogenic bladder,and mild cognitive *** diagnosis of APBD encompasses a large spectrum of conditions including axonal and demyelinating sensorimotor polyneuropathy,progressive spastic paraparesis,and leukodystrophies.

关键词： GBE bladder diagnosis

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Current status and prospects of studies on human genetic alleles associated with hepatitis B virus infection

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World Journal of Gastroenterology 2003年第4期9卷 641-644页

作者： Fu-Sheng Wang Division of Biological Engineering,Beijing Institute of Infectious Diseases,100 Xi Si-Huan-Zhong Road,Beijing 100039,china Division of Bioengineering Beijing Institute of Infectious Diseases 100 Xi Si-Huan-Zhong Road Beijing 100039 China. fswang@***

Chronic hepatitis B virus (HBV) infection can cause a broad spectrum diseases, including from asymptomatic HBV carriers or cryptic hepatitis, to acute hepatitis, chronic hepatitis, Liver cirrhosis and primary hepatocellular carcinoma. The variable pattern and clinical outcome of the infection were mainly determined by virological itself factors, host immunological factors and genetic factors as well as the experimental factors. Among the human genetic factors, major candidate or identified genes involved in the process of HBV infection fall into the following categories: (1) genes that mediate the processes of viral entry into hepatocytes, induding genes involved in viral binding, fusion with cellular membrane and transportation in target cells; (2) genes that modulate or control the immune response to HBV infection; (3) genes that participate in the pathological alterations in liver tissue;(4) genes involved in the development of liver cirrhosis and hepatocellular carcinoma associated with chronic HBV infection, including genes related to mother-to-infant transmission of HBV infection; and (5) those that contribute to resistance to antiviral therapies. Most of the reports of human genes associated with HBV infection have currently focused on HLA associations. For example, some investigators reported the association of the HLA class Ⅱ alleles such as DRB1*1302 or HLA-DR13 or DQA1*0501-DQB1*0301-DQB1*1102 haplotypes with acute and/or chronic hepatitis B virus infection, respectively. Several pro-inflammatory cytokines such as Th1 cytokines (including IL-2 and IFN-γ)and TNF-α have been identified to participate the process of viral clearance and host immune response to HBV. In contrast, the Th2 cytokine IL-10 serves as a potent inhibitor of Th1 effector cells in HBV diseases. The MBP polymorphisms in its encoding region were found to be involved in chronic infection. Thus, reports from various laboratories have shown some inconsistencies with regard to the effects of

关键词：乙型肝炎病毒慢性乙型肝炎遗传学等位基因基因多态性病毒携带者

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新一代无创产前筛查技术NIPT2.0临床应用策略专家共识

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中华医学遗传学杂志 2024年第10期41卷 1155-1163页

作者：中国妇幼保健协会生育保健分会徐晨明阴赪宏尹爱华刘珊玲蒋宇林罗琼王华黄荷凤不详复旦大学附属妇产科医院遗传中心上海200011 首都医科大学附属北京妇产医院/北京妇幼保健院产前诊断中心北京100026 广东省妇幼保健院医学遗传中心广州510010 四川大学华西第二医院医学遗传科/产前诊断中心成都610041 北京协和医院产科北京100730 浙江大学医学院附属妇产科医院妇产科杭州310006 湖南省儿童医院医学遗传科国家卫健委出生缺陷研究与预防重点实验室长沙410021 复旦大学生殖与发育研究院上海200433

新一代无创产前筛查技术(NIPT2.0)是近年来基于高通量测序成功实现的对胎儿染色体非整倍体、微缺失/微重复综合征和显性单基因遗传病进行同步筛查的新型无创产前检测方法。NIPT2.0弥补了上一代无创产前筛查技术(NIPT和NIPT Plus)无法检... 详细信息

新一代无创产前筛查技术(NIPT2.0)是近年来基于高通量测序成功实现的对胎儿染色体非整倍体、微缺失/微重复综合征和显性单基因遗传病进行同步筛查的新型无创产前检测方法。NIPT2.0弥补了上一代无创产前筛查技术(NIPT和NIPT Plus)无法检测胎儿单基因遗传病、对部分染色体异常(尤其是13三体、性染色体异常和部分微缺失/微重复综合征)检测不够准确、阳性预测值较低的缺陷。如何合理、规范地应用NIPT2.0,最大限度地发挥其临床价值,已成为亟待明确的问题。鉴于此,中国妇幼保健协会生育保健分会组织专家对上述问题进行了充分的讨论,共同起草了本共识,对NIPT2.0的临床应用策略,包括适用范围、目标疾病、检测前咨询、临床应用路径、检测后遗传咨询和干预、质量控制、局限性等方面提出建议,供国内同行参考,以规范其应用,更好地为临床服务。

关键词：无创产前筛查染色体异常显性单基因遗传病专家共识

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PEI-PEG as a siRNA genetic Vector Demonstrating Interference in the Expression of CD44v6 Protein in Gastric Cancer Cells

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clinical oncology and cancer researeh 2010年第3期7卷 187-192页

作者： Kai-hong HUANG Ying WU Yin-ting CHEN Hui DENG Guo-da LIAN Xin-tao SHUAI department of Gastroenterology 2nd Affiliated Hospital Sun Yat-Sen University Guangzhou 510120 Guangdong Province China. School of Chemistry and Chemical Engineering Sun Yat-Sen University Guangzhou 510275 Guangdong Province China.

OBJECTIVE To investigate the effect of polyethylene imine glycol （PEI-PEG）/siRNA nanocomposites in the in vitro transfection of human gastric cancer SGC7901 cell lines and the down-regulation of gene expression of the adherence factor CD44v6. METHODS PEI-PEG/siRNA nanoparticles, in different N/P ratios, were synthesized and transfected into gastric cancer cells. Lipo2000/siRNA was used in the control group. The transfection efficiencies were observed under fluorescence microscope. The cytotoxicity of the nanoparticles was measured using the MTT assay （mononuclear cell direct cytotoxicity assay）, and the down-regulation effect of siRNA on CD44v6 gene was evaluated by Western blot. Based on the different N/P ratios, PEI-PEG/siRNA composites were synthesized and transfected into gastric cancer cells. Lipo2000/siRNA was used in the controls. The transfection efficiency was observed under fluorescence microscope. The cytotoxicity of the nanoparticles was measured using the MTT assay and the down-regulation effect of siRNA on CD44v6 gene was evaluated by Western blot. RESULTS After transfection, the transfection efficiency of the PEI-PEG/siRNA nanocomposites increased incrementally in N/P ratio value. The transfection efficiency improved with an increase in N/P ratio. When the N/P value was 15, fluorescence became more intense in the PEI-PEG/siRNA group than in the Lipo2000/siRNA group. At the same time, cell viability was （80.4 ± 5.6）% in the MTT reduction assay, which was similar to that in the Lipo2000/siRNA group. The results of Western blot analysis showed that the expression level of CD44v6 protein decreased to （59.7 ± 3.0）% after siRNA-CD44v6 was inhibited. CONCLUSION PEI-PEG could effectively form the nanocomposite in combination with siRNA, be transfected into the SGC7901 gastric cancer cell lines and inhibit CD44v6 protein expression. Moreover, as a genetic carrier, PEI-PEG copolymer has greater advantages, including high transfection e. ciency, less cytotoxicit

关键词： siRNA PEI-PEG transfection efficiency cytotoxicity CD44v6 gene gastric cancer cell

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A novel mutation in the SRY gene of a Chinese 46,XY female patient with unilateral mixed germ cell tumor

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Journal of Reproduction and Contraception 2016年第2期27卷 82-88页

作者： Yan-ling DONG Yu-ting YI Hua-mei HU Rong ZHANG Tao LIU Li-ying ZHOU Li-jie SONG Xin YI hong YAO department of Obstetrics & Gynecology Southwest Hospital the Third Military Medical University Tianjin Medical Genomics Technology Engineering Center

Objective To determine the nosogenetic factors of a 46,XY female with primary amenorrhea and unilateral mixed germ cell *** Eight genes associated with 46,XY gonadal dysgenesis were detected in the patient and her parents by target region captured-next generation *** An insertion of a single nucleotide（adenine） at the coding site 230（c.230231insA） located in the high mobility group（HMG） domain of SRY was revealed,which led to a truncated protein（***77 fsX 27）. This mutation was at position 2655414 of the Y chromosome, supported with 127 unique mapped reads, however, this mutation was not found in the in-house dataset of 1 092 controls. Additionally, none of the candidate gene was detected in the patient’s parents, which indicated that it is a de novo *** A novel SRY sporadic mutation due to a single nucleotide insertion at position 230（c.230231insA） was identified as the cause of the disease in this *** region captured-next generation sequencing was found to be an effective method for the molecular genetic testing of 46,XY complete gonadal dysgenesis（46,XY CGD）.

关键词： 46,XY complete gonadal dysgenesis(46,XY CGD) SRY gene novel mutation next generation sequencing(NGS)

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人工智能辅助诊疗发展现状与战略研究

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中国工程科学 2018年第2期20卷 86-91页

作者：孔鸣何前锋李兰娟浙江大学计算机科学与技术学院杭州310027 浙江大学医学院附属第一医院杭州310003

医疗健康数据的融合、开放共享,利用人工智能对碎片化医学信息进行整理分析,对医疗诊断过程提供辅助,可改善医疗健康服务,促进政府决策合理化,缓解医疗卫生资源配置不均衡问题。本文选取健康医疗信息人机交互、数据智能中的语义理解与... 详细信息

医疗健康数据的融合、开放共享,利用人工智能对碎片化医学信息进行整理分析,对医疗诊断过程提供辅助,可改善医疗健康服务,促进政府决策合理化,缓解医疗卫生资源配置不均衡问题。本文选取健康医疗信息人机交互、数据智能中的语义理解与医学影像分析等方面,简要阐述了人工智能在辅助诊疗问题上的发展方向与现状,讨论了智能诊疗技术发展与应用的问题与挑战:一是医学信息的标准化表征和结构化整合构建术语标准是关键;二是利用海量医学知识,构建多模态数据采集分析与结构化知识推理相结合的智能诊疗模型是重要的影像智能发展点。建议建立国家级的健康医疗开放大数据云平台,开辟新的数据、信息整合、知识发现及服务市场;构建医疗健康信息的一些基础行业标准,加强国产高端医疗器械的研发力度,推动智能化医疗器械和智能可穿戴式设备的研发,引导产业在人工智能与高端医疗器械的结合上开辟新的市场。

关键词：人工智能辅助诊疗知识图谱医学本体医学影像分析

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单基因遗传性疾病的胚胎种植前遗传学诊断——单倍体定型连锁分析的运用

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国际生殖健康／计划生育杂志 2011年第2期30卷 75-79页

作者：孔德汶加拿大蒙特利尔生殖中心

单基因疾病的胚胎种植前遗传学诊断(SGD-PGD)是一种已在很多欧洲和北美洲国家建立并能提供临床服务的胚胎遗传学分析诊断程序,能为那些家庭中带有某种遗传性疾病致病基因的夫妇提供临床服务,使这些夫妇可生养出正常或隐性致病基因携带... 详细信息

单基因疾病的胚胎种植前遗传学诊断(SGD-PGD)是一种已在很多欧洲和北美洲国家建立并能提供临床服务的胚胎遗传学分析诊断程序,能为那些家庭中带有某种遗传性疾病致病基因的夫妇提供临床服务,使这些夫妇可生养出正常或隐性致病基因携带者的子代。从SGD-PGD获得的正常婴儿很有可能使该致病基因就此在这些家庭中不再下传,因此也有人认为此临床服务是遗传性疾病在基因水平上的一级预防,大有前途。在中国,人口基数巨大,遗传性疾病的发病绝对人数很高,故在中国开展SGD-PGD对提高人口素质和国计民生有重大意义。从1998年以来,笔者对35种单基因遗传性疾病作过SGD-PGD可行性评估、设计和实施。简要述评单倍体定型连锁分析在SGD-PGD中的应用。

关键词：单基因疾病的胚胎种植前遗传学诊断单倍体定型 DNA多聚酶链式反应 DNA在扩增中的位点丢失连续短重复顺序

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Analysis of health service Utilization and its Influencing Factors among Patients with Pneumoconiosis in china

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Biomedical and Environmental Sciences 2021年第1期34卷 83-88页

作者： WANG Huan Qiang JIA Jun Lin JIANG Zhao Qiang JIN Qi LI Dong Xia LING Rui Jie LI Ying CUI Ping CHEN Gang ZHAO hong Yu LI Yan WEN Ke LYU Xiang Pei LOU Jian Lin LI Tao National Institute of Occupational health and Poison Control Chinese Center for Disease Control and PreventionBeijing 100050China Hangzhou Medical College(Zhejia ng Academy of Medical Sciences) Hangzhou 310013ZhejiangChina Center for clinical Big Data and Analytics The Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310009ZhejiangChina Guizhou Hospital for Occupational Disease Prevention and Control Guiyang 550006GuizhouChina Hubei Hospital for Occupational Diseases Wuhan 430000HubeiChina Hunan Prevention and Treatment Center for Occupational Disease Changsha 410007HunanChina Shandong Academy of Occupational health and Occupational Medicine Jinan 250062ShandongChina Beidaihe Hospital for Occupational Disease Prevent on and ControlState Administration of Production SafetyQinhuangdao 066100HebeiChina Yunnan Hospital for Occupational Diseases Kunming 650011YunnanChina Jilin Hospital for Occupational Disease Prevention and Control Changchun 132000JilinChina

Pneumoconiosis,an interstitial lung disease that occurs from breathing in certain kinds of damaging dust particles,is a major occupational disease in *** diagnosed with occupational pneumoconiosis can avail of free medical treatment,whereas patients without a diagnosis of occupational diseases cannot not claim free medical treatment in most provinces from the government before *** study aimed to analyze the priority of medical facility selection and its influencing factors among patients with pneumoconiosis.

关键词： diagnosis treatment among

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我国医疗技术管理现状及卫生政策反思

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医学与哲学（A） 2016年第6期37卷 16-20,36页

作者：吴洪涛苏州大学附属第一医院保卫处江苏苏州215006

医疗技术突破性发展在丰富临床诊治手段的同时,也带来了一系列负面效应。其中探索性、限制性医疗技术的滥用与适宜技术推广力度不够的现象并存,是当今医疗技术管理乱象的主要表征,这主要归咎于医改的市场化、立法的缺失、医疗保障制度... 详细信息

医疗技术突破性发展在丰富临床诊治手段的同时,也带来了一系列负面效应。其中探索性、限制性医疗技术的滥用与适宜技术推广力度不够的现象并存,是当今医疗技术管理乱象的主要表征,这主要归咎于医改的市场化、立法的缺失、医疗保障制度设计的缺陷和价格管理的漏洞。建立应对医疗技术快速发展的良性管理系统需要从强化政府宏观调控、构建医疗技术组织管理体系、建立科学合理的卫生技术评估体系、加强医疗机构动态监管及跟踪评估到完善相关法律法规入手,以实现医疗技术管理的法治化。

关键词：卫生政策医疗技术管理患者安全

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