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红腿长吻松鼠（Dremomys pyrrhomerus）是一种主要分布于我国的长吻松鼠，但对其生物学和生态学特征鲜有研究报道。为揭示红腿长吻松鼠的食物种类组成及其取食偏好，运用高通量测序技术对贵州北部地区采集的红腿长吻松鼠进行食性分析。结果表明：红腿长吻松鼠所食植物包含4门85科180属，动物包含3门59科71属，其中，胡桃科（Juglandaceae）、禾本科（Poaceae）、壳斗科（Fagaceae）、蔷薇科（Rosaceae）、鼠李科（Rhamnaceae）和樟科（Lauraceae）等是红腿长吻松鼠主要的植物性食物，而田螺科（Viviparidae）、蚌科（Unionidae）、剑水蚤科（Cyclopidae）、沼大蚊科（Limoniidae）、管蓟马科（Phlaeothripidae）和螽斯科（Tettigoniidae）等是其主要的动物性食物。此外，不同性别红腿长吻松鼠的食性具有一定的差异性，雌性红腿长吻松鼠的食物多样性均高于雄性，雌性和雄性的植物性食物重叠度较高，而动物性食物重叠度较低。研究结果丰富了黔北喀斯特台原地区小型哺乳动物的摄食生态学。

急性髓系白血病（AML）在急性白血病中最为常见,是一类具有高度异质性的侵袭性血液系统疾病,其中t（8;21）（q22;q22）染色体易位是AML中最常见的染色体易位,可产生AML1-ETO融合基因并编码AML1-ETO融合蛋白。本文对急性髓系白血病发生的“二次打击”学说,t（8;21）AML的发病机制,涉及t（8;21）AML发生发展的各种因素,AML1-ETO融合蛋白组成成分的功能等进行综述,为t（8;21）AML的临床治疗和预后提供重要的基本信息。同时本文还总结了二代测序技术在白血病领域的研究进展,以期为t（8;21）AML的精准治疗提供新方法。

隐纹花松鼠(Tamiops swinhoei)广布于我国南方各省且十分常见,但对其食性与生态研究却罕有报道,为进一步开展其觅食生态学研究,通过高通量测序技术测定贵州荔波茂兰喀斯特地区的隐纹花松鼠个体样本的胃容物。结果表明:从茂兰喀斯特地区的隐纹花松鼠胃容物中鉴定出植物7门73科109属,动物8门82科120属。其中,植物主要包括壳斗科(Fagaceae)、樟科(Lauraceae)、平藓科(Neckeraceae)、山茱萸科(Cornaceae)、胡桃科(Juglandaceae)和毛茛科(Ranunculaceae)等物种,动物主要包括刺蛾科(Limacodidae)、蝽科(Pentatomidae)、匍蠊科(Blaberidae)和步行虫科(Carabidae)等物种。研究结果可为隐纹花松鼠及其同域分布物种的保护与管理提供依据。

Piwi-interacting RNA （piRNA） plays an important role in the gonadal development and maintenance of Teleostei. In this study, piRNA libraries derived from the adult gonads of Japanese flounder （Paralichthys ofivaceus） were generated using next-generation sequencing technology. Using zebrafish piRNAs as a reference, 5 865 unique candidate piRNAs were identified; 289 candidate piRNA clusters （PRCs） were generated from the above piRNAs. Among the isolated candidate PRCs, a total of 38 ovary-specific, 45 ovary-bias, 24 testis-specific, and 131 testis-bias PRCs were found. The relative expression levels of seven PRCs were validated through quantitative reverse transcription-polymerase chain reaction. The results of this study will help facilitate exploration of the development and maintenance of the phenotypic sex mechanism in P. olivaceus.

With the development of high-throughput sequencing technology in the post-genomic era, researchers have concentrated their efforts on elucidating the relationships between genes and their corresponding functions. Recently, important progress has been achieved in the generation of genetically modified mice based on CRISPR/Cas9 and haploid embryonic stem cell （haESC） approaches, which provide new platforms for gene function analysis, human disease modeling, and gene therapy. Here, we review the CRISPR/Cas9 and haESC technology for the generation of genetically modified mice and discuss the key challenges in the application of these approaches.

DNA（主要是CpG的）甲基化是其遗传机制和表型效应最为明确的表观遗传性机制。DNA甲基化谱式的变化不仅指导在正常发育过程中细胞谱系特化所依据的基因组转录谱式的改变,且在疾病发生和发展的基因表达异化中起着决定性的作用。DNA是远比RNA、蛋白和小分子代谢物稳定的生物标志物,其所携带的遗传（突变，融合和拷贝数变异）和DNA甲基化状态的信息在疾病的诊，治方面有着更好的前景。

基因测序技术的进步,为分子生物学的发展,起到了巨大的推动作用。传统的基因测序技术的重要代表,是所谓的Sanger测序法,这是一种以末端终止法为原理建立起来的技术[1]。20世纪90年代开始启动的人类基因组计划,

全国第十一次医学遗传学学术会议（中华医学会2012年医学遗传学年会）拟定于2012年10月25—28日在福建省武夷山市召开。本次研讨会经中华医学会批准，列入2012年学术活动计划（医学会继教备字[2012]第003号）。会议由中华医学会医学遗传学分会、中国遗传学会人类和医学遗传学委员会主办，福建省医学会及福建省遗传学会协办，南京军区福州总医院承办。会议主题：“新一代测序技术与医学遗传学进步”，将围绕一年来国内外医学遗传学各领域的新进展进行广泛学术交流。

Nanopores for DNA sequencing have drawn much attention due to their potentials to achieve amplification-free, low-cost, and high-throughput analysis of nuclei acids. The material configuration and fabrication of the nanopore has become one important consideration in the nanopore based DNA sequencing research. Among various materials, the newly emerged graphene has brought more opportunities to the development of sequencing technology because of its unique structures and properties. This review mainly focuses on the experimental aspects of graphene nanopore research including the nanopore fabrication methods and processes. Meanwhile, the challenges in the present graphene nanopore research including hydrophobicity, translocation velocity and noise are also addressed and discussed.

Many viruses can cause respiratory diseases in humans.Although great advances have been achieved in methods of diagnosis,it remains challenging to identify pathogens in unexplained pneumonia（UP） cases.In this study,we applied next-generation sequencing（NGS） technology and a metagenomic approach to detect and characterize respiratory viruses in UP cases from Guizhou Province,China.A total of 33 oropharyngeal swabs were obtained from hospitalized UP patients and subjected to NGS.An unbiased metagenomic analysis pipeline identified 13 virus species in 16 samples.Human rhinovirus C was the virus most frequently detected and was identified in seven samples.Human measles virus,adenovirus B 55 and coxsackievirus A10 were also identified.Metagenomic sequencing also provided virus genomic sequences,which enabled genotype characterization and phylogenetic analysis.For cases of multiple infection,metagenomic sequencing afforded information regarding the quantity of each virus in the sample,which could be used to evaluate each viruses＇ role in the disease.Our study highlights the potential of metagenomic sequencing for pathogen identification in UP cases.