采用全外显子测序分析技术诊断X连锁慢性肉芽肿病一家系

慢性肉芽肿病(chronic granulomatous disease,CGD)是一种罕见的原发性免疫缺陷病,是因编码NADPH氧化酶的基因缺陷引起。CGD的遗传方式有X连锁隐性遗传(XR-CGD)及常染色体隐性遗传(AR-CGD)等,其中X连锁隐性遗传更为常见[1]。XR-CGD是由编码NADPH氧化酶的蛋白亚基gp91phox的CYBB基因突变引起[2-4]。2015年7月15日,笔者医院收治1例临床表现为反复感染

Integrative eQTL-Based Analyses Reveal the Biology of Breast Cancer Risk Loci

该论文是在本文通讯作者美国哈佛大学医学院代纳法伯癌症中心马修.弗里德曼教授实验室完成的。Germline determinants of gene expression in tumors are infrequently studied due to the complexity of transcript regulation caused by somatically acquired alterations. We performed expression quantitative trait locus (eQTL)-based analyses using the multi-level information provided in The Cancer Genome Atlas (TCGA). Of the factors we measured, cis-acting eQTLs accounted for 1.2% of the total variation of tumor gene expression, while somatic copy-number alteration and CpG methylation accounted for 7.3% and 3.3%, respectively. eQTL analyses of 15 previously reported breast cancer risk loci resulted in the discovery of three variants that are significantly associated with transcript levels (false discovery rate [FDR] < 0.1). Our trans-based analysis identified an additional three risk loci to act through ESR1, MYC, and KLF4. These findings provide a more comprehensive picture of gene expression determinants in breast cancer as well as insights into the underlying biology of breast cancer risk loci

Group-DIA: analyzing multiple data-independent acquisition mass spectrometry data files

Discovery proteomics has limited quantification capabilities because of stochastic precursor-ion selection. Several data-independent acquisition (DIA) methods have been proposed to overcome this limitation1, 2, 3, 4, including the sequential-window acquisition of all theoretical mass spectra (SWATH-MS)4.the National Science Foundation (NSF) of China (grants 91429301 and 31221065), 973 Program 2015CB553800, National Major Project 2013ZX10002-002, 111 Project B12001, funding from Xiamen City (grant 3502Z20130027) and the NSF of China for Fostering Talents in Basic Research (grant J1310027)

Clone and Expression of the HIV Suppressive Polypeptide Cyanovirin-N

Cyanovirin-N(CV-N)是美国科学家BoydMR于1995年在椭孢念珠藻(Nostocelliposporum)中发现的一种大小为11KD的天然抗病毒多肽。相关的研究表明，CV-N对HIV-I，HIV-II及SIV等多种包膜病毒具有显著的抑制作用。与疫苗类治疗途径不同，CV-N能够特异性的结合HIV外膜上的gp120蛋白，从而阻遏了gp120同宿主T细胞表面CD4抗原的结合，而这恰恰是HIV侵入T细胞的关键环节。CV-N的这一特性使之有希望成为一种高效的AIDS非疫苗治疗途径，利用CV-N开发抗AIDS药物的研究工作在国外已取得一定的进展，本课题正是在这一背景下开展的。在此项研究中...Cyanovirin-N(CV-N), a 11KD natural polypeptide discovered by Boyd M R et al. in cyanobacteria Nosto celliposporum, has been proved to have a remarkable prohibitive effect against HIV-I, HIV-II and SIV. Cyanovirin-N can specifically combine to gp120 on the membrane of the HIV particles so as to prevent glucoprotein gp120 from binding to CD4 antigen of the host cells, which triggers the membrane fus...学位：理学硕士院系专业：生命科学学院生物学系_细胞生物学学号：20002602

Advancement in research of cyanovirin-N, a HIV-inactivating protein

蓝藻抗病毒蛋白 N (cyanovirin N ,CV N )是一种从椭孢念珠藻 (Nostocelliposporum )中分离出的抗病毒活性蛋白 ,能够有效地抑制多个亚型的人类免疫缺陷病毒Ⅰ (HIV Ⅰ ) ,Ⅱ (HIV Ⅱ )以及猴免疫缺陷病毒 (SIV )。CV N的上述特性使它可能成为艾滋病 (AIDS)的潜在高效治疗药物。大量研究证明 ,CV N与包膜糖蛋白 12 0 (GP12 0 )具有高度亲和性并能够阻断由包膜蛋白介导的细胞融合过程从而阻止病毒的扩散。CV N的出现标志着天然多肽抗艾滋病药物时代的到来Cyanovirin N(CV N), a 11KD anti HIV polypeptide, was originally isolated from blue green algae Nostoc elliposporum . The most special character of CV N is that it can markedly suppress the activity of several substrains of HIV Ⅰ ,HIV Ⅱ and SIVs. Such suppression of HIV makes CV N an extraordinary valuable potential medicine for AIDS treatment. Researchers have proved that CV N has a specific affinity to GP120 and can subsequently interfere the cell fusion mediated by it, which causes the further infection of HIV among cells. CV N defines a new strategy of AIDS treatment through natural viruscidous peptide

Exome Sequencing Revealed Novel Germline Mutations in Chinese Peutz-Jeghers Syndrome Patients

National Natural Science Foundation of China [81370505, 81072013, 91229201]; Fundamental Research Funds for the Central Universities in China [2010111082]; Foundations of Health Bureau of Xiamen in China [3502Z200940010]Background and Aims Peutz-Jeghers Syndrome (PJS) is an autosomal dominant disorder which predisposes to the development of various cancers. Germline mutation in the serine/threonine kinase 11 gene (STK11) is known as one of the major causes of PJS. However, a notable proportion of PJS samples do not carry any mutation in STK11, suggesting possible genetic heterogeneity in the disease and the existence of other causative variants. In order to identify other germline variants in the coding regions of the genome that are associated with PJS, we performed exome sequencing in three Chinese individuals with PJS and identified 16 common germline variants (12 protein-coding including STK11, 4 in pre-microRNAs). We further validated protein-coding variants in six PJS individuals (three with wild-type STK11) and predicted the functional impact. As result, we found that 7 coding variants are likely to have functional impacts. Especially, we identified 2 new germline variants which are represented in all six PJS samples and are independent of STK11 mutation. Our study provided an exomic view of PJS. The germline variants identified in our analysis may help to resolve the complex genetic background of the disease and thus lead to the discovery of novel causative variants of PJS

Analysis of Variations in Gene Fragments of SARS-CoV

采用基因序列和生物信息分析法,研究了SARS CoV复制酶基因中4个片段.结果发现,片段I与已报道的SARS冠状病毒ZJ01有2个位点不同,片段III与CUHK W1、CUHK Su10、HKU 39849和Hong Kong各有1个位点的差别;片段IV与GZ01间有1个位点的变化.同时对已公布的17个全基因组序列进行比对分析,可找到共137个变异位点,其中仅出现1次的变异位点119个,间约信息位点18个.厦门市科技计划资助课

JUNO Sensitivity on Proton Decay p→νˉK+p\to \bar\nu K^+ Searches

The Jiangmen Underground Neutrino Observatory (JUNO) is a large liquid scintillator detector designed to explore many topics in fundamental physics. In this paper, the potential on searching for proton decay in $p\to \bar\nu K^+$ mode with JUNO is investigated.The kaon and its decay particles feature a clear three-fold coincidence signature that results in a high efficiency for identification. Moreover, the excellent energy resolution of JUNO permits to suppress the sizable background caused by other delayed signals. Based on these advantages, the detection efficiency for the proton decay via $p\to \bar\nu K^+$ is 36.9% with a background level of 0.2 events after 10 years of data taking. The estimated sensitivity based on 200 kton-years exposure is $9.6 \times 10^{33}$ years, competitive with the current best limits on the proton lifetime in this channel