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Screening of GJB2 mutations in chinese population

Journal of Otology 2007年第1期2卷 18-22页

作者： HAN Ming-kun1, HAN Dong-yi1, GUO Yu-fen2, LI Qing-zhong3, ZHAO Ya-li1, 4, RAO Shao-qi1, 5, 6, YUAN Hu1, ZONG Liang1, GUAN Jing2, XU Bai-cheng2, WANG Da-yong1, LAN lan1, WANG Qiu-ju1, 7 1 department of Otorhinolaryngology/ Head and Neck Surgery, and institute of Otolaryngology, china People Liberation Army General Hospital, beijing, china 2 department of Otorhinolaryngology/ Head and Neck Surgery, the Second Affiliated Hospital of LanZhou University, Lanzhou, china 3 Deparment of Otlolaryngology, Eye and ENT Hospital of Fudan University, Shanghai, china 4 department of biochemistry and molecular biology, institute of basic medical sciences, chinese academy of medical sciences and peking union medical college, beijing, china 5 departments of Cardiovascular Medicine and molecular Cardiology, the Cleveland Clinic Foundation, Cleveland, Ohio, USA 6 department of Bioinformatics, Harbin medical University, Harbin, china 7 china National Human Genome Center, beijing, china department of Otorhinolaryngology/ Head and Neck Surgery and Institute of Otolaryngology China People Liberation Army General Hospital Beijing China department of Otorhinolaryngology/ Head and Neck Surgery the Second Affiliated Hospital of LanZhou University Lanzhou China Deparment of Otlolaryngology Eye and ENT Hospital of Fudan University Shanghai China department of biochemistry and molecular biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China departments of Cardiovascular Medicine and molecular Cardiology the Cleveland Clinic Foundation Cleveland Ohio USA department of Bioinformatics Harbin Medical University Harbin China china National Human Genome Center Beijing China

The GJB2 gene(connexin 26) has been shown to be responsible for DFNB1 and DFNA3. We screened the GJB2 gene in 488 patients with prelingual deafness(Group 1), 124 with postlingual deafness(Group 2), and 117 normal hearing subjects(Group 3). We found that, in Group 1, 65 patients(13.32%) were homozygotes or compound heterozygotes and 51 patients (10.45%) carried a single pathogenic mutation. The 235delC mutation was the most frequent mutation, accounting for 73.22% of the known pathogenic alleles in Group 1. No homozygotes or compound heterozygotes were detected in Group 2 or Group 3. Some postlingual deaf patients (2.42%) and normal hearing subjects(4.27%) were 235delC carriers. Our preliminary data indicate that 235delC, the most frequent mutation identified in this study, is a major cause for prelingual deafness.

关键词： prelingual deafness postlingual deafness, GJB2 235delC chinese

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Cloning and Characterization of a Novel Gene SRG-L Expressed in Late Stages of Mouse Spermatogenic Cells

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Acta Biochimica et Biophysica Sinica 2004年第5期36卷 315-322页

作者： Rui GUO, Peng-Peng MA, Jing MA, Ye-Hua GE, She-Pu XUE, and Dai-Shu HAN*department of Cell biology, institute of basic medical sciences, chinese academy of medical sciences & peking union medical college,beijing 100005, china department of Cell biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences & Peking Union Medical College

A cDNA expressed specifically in late stages of mouse spermatogenic cells during spermato- genesis was cloned by using overlapping RT-PCR and RACE. The cDNA contained an open reading frame (ORF) of 2625 base pairs that encoded an 874 amino acids protein. Comparison analysis of amino acid sequence showed 91% and 80% identity to a rat homologue XP-226242 and a monkey homologue BAB63115 respectively. The expression of the mRNA was only observed in pachytene spermatocytes, round, and elongating spermatids. We named this gene as SRG-L (spermatogenesis related gene expressed in the late stages of spermatogenic cells, GenBank accession No. AY352586). The tissue-specific analysis showed that the SRG-L was highly expressed in spleen and testis. The results suggested that SRG-L might play special roles during spermatogenesis, particularly related to meiosis and spermiogenesis. Analysis of the amino acid sequence showed there was a coiled-coil region near the N-terminal region and rich phosphorylation sites, suggesting SRG-L might function as a transmembrane protein mediating signal transduction. This study also demonstrated that gene cloning by RT-PCR was applicable and convenient when its homologous gene was known.

关键词： spermatogenesis RT-PCR RACE gene cloning

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In Memoriam: Professor Ray WU

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Science china(Life sciences) 2010年第4期53卷 531-532页

作者： HUANG Bing-Ren National Laboratory of medical molecular biology, department of biochemistry and molecular biology, peking union medical college & chinese academy of medical sciences, beijing 100005, china 1. National Laboratory of medical molecular biology Department of Biochemistry and Molecular Biology Peking Union Medical College & Chinese Academy of Medical Sciences Beijing 100005 China

During the chinese New Year holidays in 2008, Professor Zhang Nai-Heng, former chair of the department of biochemistry, beijing medical college, informed me of the sad news that Professor Ray Wu had passed away in Ith... 详细信息

关键词： In Memoriam very Professor Ray WU DNA

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Reference ranges and age-related changes of peripheral blood lymphocyte subsets in chinese healthy adults

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Science china(Life sciences) 2009年第7期52卷 643-650页

作者： JIAO Yang1,QIU ZhiFeng1,XIE Jing1,LI DongJing2 & LI TaiSheng1 1 department of Infectious Disease,peking union medical college Hospital,peking union medical college & chinese academy of medical sciences,beijing,china 2 department of Special Care Unit,peking union medical college Hospital,peking union medical college & chinese academy of medical sciences,beijing,china department of Infectious Disease Peking Union Medical College Hospital Peking Union Medical College & Chinese Academy of Medical Sciences Beijing China department of Special Care Unit Peking Union Medical College Hospital Peking Union Medical College & Chinese Academy of Medical Sciences Beijing China

This study was performed to build region-specific reference ranges of peripheral blood lymphocyte subsets for chinese healthy adults from the young to the elderly and analyze the trends of changes in lymphocyte subsets for evaluating the impact of age on the values.151 healthy adults aged 19-86 were recruited based on the SENIEUR *** sets of reference ranges were finally built applicable for the healthy young(19-44 years),middle-aged(45-64 years) and elder adults(≥65).Comparisons in parameters among the three cohorts showed that a statistically significant increase in CD16CD56+ NK cell was observed between the middle-aged and elder cohorts,whereas for the majority of the parameters,a significant decline was observed between the young and the middle-aged *** results showed that inverse correlations were observed between the age and CD19+ B,CD3+ T,CD3+CD4+ T,CD4+CD45RA+CD62L+ nave T cell and CD4+CD28+/CD4+,while the positive one was identified between the age and the NK *** significant changes of the most of immune parameters provided evidence for ***,T cell activation markers of CD8+CD38+ and CD8+HLA-DR+ showed reverse trends of association with age,which provides a clue for further researches on the mechanisms underlying the paradoxical clinical presentation of the elder patients.

关键词： lymphocyte subsets age reference range immunosenescence

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Stem cell research:from molecular physiology to therapeutic applications

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Science china(Life sciences) 2009年第7期52卷 597-598页

作者： Chengyu Jiang department of biochemistry and molecular biology,peking union medical college,chinese academy of medical sciences,No.5 DongDanSanTiao,beijing,100005,P.R.china department of biochemistry and molecular biology Peking Union Medical College Chinese Academy of Medical Sciences No. 5 DongDanSanTiao Beijing 100005 P. R. China

Stem cell research promises remedies to many devastating diseases that are currently incurable, ranging from diabetes and Parkinson’s disease to paralysis. Totipotent embryonic stem cells have great potential for gen... 详细信息

关键词： cell Stem cell research

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Distinct Pattern of Human Vδ1 γδ T Cells Recognizing MICA

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Cellular & molecular Immunology 2005年第4期2卷 253-258页

作者： Jianqiang Li~1 Lianxian Cui~1 Wei He~(1,2) ~1department of Immunology,institute of basic medical sciences,chinese academy of medical sciences and School of basic Medicine,peking union medical college,5 Dong Dan San Tiao,beijing 100005,china department of Immunology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and School of Basic Medicine Peking Union Medical College Beijing 100005 China.

γδT cells represent one unique recognition pattern,the limited recognition,which distinguishes from the specificrecognition for αβT cells and pattern recognition for macrophages.Vδ1 γδT cell is the major subset of human γδT cells,which predominates in mucosal tissue including the intestinal ***,a few antigens thathuman Vδ1TCR can recognize have been *** them,MHC class I chain-related molecules A (MICA)have been studied most *** Vδ1TCR,MICA is also the ligand of NKG2D,a C-type lectin-likeactivating *** human,only Vδ1 cells can simultaneously express both types of receptors of MICAwhile NK cells,αβT cells and other subsets of γδT cells likewise express *** the precisemechanisms are still enigmatic,this distinct pattern of Vδ1 cells recognizing MICA predicts unique biologicalsignificance of Vδ1 cells in immune *** years,some progresses have been made in this *** thisreview we summarize the related reports and put forward some novel views based on our group’s ***& molecular Immunology.2005;2(4):253-258.

关键词： Vδ1TCR MICA NKG2D γδ T cell

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Cardiac protective role of a novel erythrocyte-derived depressing factor on rats and its Ca^2+ mechanism

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chinese Science Bulletin 2003年第24期48卷 2710-2714页

作者： WANG Yutang, WEN Yunyi, MA Ning & SHI Lei department of Physiology, institute of basic medical sciences, chinese academy of medical sciences, School of basic Medicine, peking union medical college, beijing 100005, china Correspondence should be addressed to Wen Yunyi (e-mail: wenyunyi@ ***) department of Physiology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College Beijing

The cardiac protective role of a novel erythro-cyte-derived depressing factor (EDDF) on spontaneous hy-pertensive rats (SHR), calcium overload (CaO) rats and Wistar rats and its mechanism was evaluated. Mean artery pressure (MAP), heart rate (HR) and LVdp/dtmax were measured by physiological recorder. The effect of EDDF on the Ca2+-ATPase activity in myocardial sarcoplasmic reticu-lum (SR) of CaO rats was determined by inorganic phos-phate assay. Calcium transport in myocytes was measured by 45Ca2+ radioactive isotope measurement. The phosphoryla-tion levels of extracellular signal-regulated protein kinases (ERK1/2) in myocardial tissue of SHR and CaO rats were measured by Western blot method. And the ultrastructures of cardiac muscle cells were observed with the transmission electron microscope. The results indicated that EDDF could significantly decrease MAP, HR and LVdp/dtmax in a dose dependent manner (P 4.99 7.16 vs 94.48 7.68 nmol·min-1 ·mg-1 protein, P 4 vs 64.99 ?7.16, P 45Ca2+/g protein/min) from myocardial SR of CaO rats re-markably decreased compared to control (32.40 ?2.70 and 15.46 ?1.49 vs 61.09 ?10.89 and 25.47 ?4.29, P 48 6.76 and 21.76 2.75 vs 32.40 2.70 and 15.46 1.49, P < 0.05). EDDF could evidently down-regulate the phosphorylation of ERK1/2 in myocardial tissue from SHR and CaO rats (P < 0.01), lighten the ultrastructural lesion of cardiac muscle cells of SHR as well. It is

关键词： Ca^2+ 钙离子肌质网 SR 心律 HR 红细胞血压

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Protein transduction domain of membrane penetrating peptide can efficiently deliver DNA and protein into mouse liver for gene therapy

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Hepatobiliary & Pancreatic Diseases International 2005年第1期4卷 90-93页

作者： Jun Xie, Bao-Feng Yu, Jun Xu, Yue-Hong Zhang, Niu-Liang Cheng, Bo Niu, Xiao-Nian Hu, Qian Xiang and Zheng-Guo Zhang Taiyuan, china department of biochemistry and molecular biology, Shanxi medical University, Taiyuan 030001 , china peking union medical college, Chi- nese academy of medical sciences, beijing 100005, china department of biochemistry and molecular biology Shanxi Medical University Taiyuan 030001 China. xiejunty@***

BACKGROUND: The development of a harmless and effi- cient nonviral gene delivery system that can facilitate the penetration of nucleic acids through the plasma membrane is a key to successful gene therapy. The aim of this study was to test a nonviral gene transferring vector's function of delivering DNA into liver cells to provide an important clue for gene transfer in liver gene therapy. METHODS: The complex of DNA and DNA delivering protein was injected into mice through their tail veins. Then the mice were killed and their liver tissue was sec- tioned. The gene transferring results were detected using a confocal laser scanning microscope. RESULTS: Fluorescence analysis indicated that both DNA- membrane penetrating peptide (MPP) complex and DNA- hepatocyte specific receptor binding domain ( HSRBD) - MPP complex could go into liver cells. The fluorescence value of liver cells in the DNA-HSRBD-MPP group was higher than that in the DNA-MPP group. CONCLUSIONS; MPP can successfully deliver DNA and protein into cells, and MPP with a HSRBD can specifically deliver DNA into liver cells. These have laid a foundation for further study on the nonviral liver cell gene delivering system.

关键词： membrane penetrating peptide gene therapy gene delivering

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Survival and differentiation of transplanted neural stem cells in mice brain with MPTP-induced Parkinson disease

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Acta Pharmacologica Sinica 2003年第12期24卷 18-24页

作者： LI Xue-Kun, GUO An-Chen, ZUO Ping-Ping department of Pharmacology, School of basic Medicine, peking union medical college & chinese academy of medical sciences, beijing 100005, china department of Pharmacology School of Basic Medicine Peking Union Medical College & Chinese Academy of Medical Sciences Beijing 100005 China

AIM: To determine survival and differentiation of cultured neural stem cells (NSCs) into viable and functional neurons upon transplantation into mice brain of MPTP-induced Parkinson disease (PD). METHODS: Mouse model of PD was established with two subcutaneous (sc) injections of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP, 40 mg/kg) twice, 16h apart. NSCs isolated from rat embryo midbrain were cultured in clonal density. After labeled with 5-bromo-2’-deoxyuridine (BrdU), the NSCs were transplanted into the uni-or bi-lateral striatum of PD mouse. Tyrosine hydroxylase (TH) immunofluorescence was used to evaluate the toxicity of MPTP on the neural cells in the substantia nigra. Immunohistology and laser confocal microscope were used to detect the survival and differentiation of transplanted NSCs. RESULTS: The cultured NSCs generated neurospheres and differentiated into neuron and astrocyte. It indicated that the cultured NSCs were multipotent and self-renewal in vitro. TH-positive neural cells were

关键词： neural stem cells cell transplantation Parkinson disease cell survival cell differentiation

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在Yunnanese（Aγδβ）^0—地贫3′缺失端点下游鉴别到两个增强子样顺序

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生物化学与生物物理进展 2002年第1期29卷 114-119页

作者：黄小东张俊武中国医学科学院中国协和医科大学基础医学研究所

利用荧光酶报告基因系统搜索了Yunnanese (Aγδβ) 0 地中海贫血缺失 3′端点下游 11 5kb区域内的调控顺序 .确定缺失 3′端点立即下游区 1 7kb片段 ,在人红白血病细胞K5 6 2及鼠红白血病细胞MELGM979中 ,可使γ 珠蛋白基因启动子驱... 详细信息

利用荧光酶报告基因系统搜索了Yunnanese (Aγδβ) 0 地中海贫血缺失 3′端点下游 11 5kb区域内的调控顺序 .确定缺失 3′端点立即下游区 1 7kb片段 ,在人红白血病细胞K5 6 2及鼠红白血病细胞MELGM979中 ,可使γ 珠蛋白基因启动子驱动的荧光酶基因表达增加 3 8～ 4 0倍 ,而在HeLa细胞中仅增加 1 5倍 .位于缺失 3′端点约 10kb的一个长 1 4kb片段在K5 6 2和MELGM979中 ,可使γ 基因启动子驱动的荧光酶基因表达增加 2 4～2 9倍 ,而在HeLa细胞中无增加 .结果说明这两段顺序均有增强子活性 ,并且这种活性具有一定的红细胞特异性 .进一步证明 1 7kb片段内包含多个转录调节蛋白结合模体的 430bp片段包含了 1 7kb片段的大部分增强子活性 .这些结果为缺失导致增强子样顺序并入到接近Gγ 基因 ,是Yunnanese (Aγδβ) 0 地贫缺失突变体中胎儿Gγ 珠蛋白基因 ,在成人期持续活跃表达原因的假设提供了实验证据 .

关键词： Gγ-珠蛋白基因 γ(Aδβ)^0-地中海贫血增强子样顺序成人胎儿

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