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关键词： 研究导向型   细胞遗传学   教学改革  

摘要： 细胞遗传学是遗传学的重要分支学科,在人类健康、植物育种和基础研究等领域都具有巨大的应用前景。本文探讨了如何将以学生为中心的研究导向型教学理念应用于细胞遗传学教学中,最终改变以知识灌输为主导的传统教学模式,培养学生的自主学习能力,取得了更好的教学效果。

关键词： 科研人员   科研成果   食用菌产业   基因编辑   分子生物学技术   菌物学   高通量测序   遗传学研究  

摘要： 食用菌遗传学研究是食用菌学科最重要的基础。我国食用菌产业40多年的高速发展为食用菌学科提供诸多的科学问题,这其中有很多都涉及到食用菌遗传学,我国科研人员围绕这些科学问题开展了持久而深入的研究,并获得了大量的科研成果;同时高通量测序、遗传转化、基因编辑等分子生物学技术也广泛地成功运用于食用菌遗传学多个方面的研究。

关键词： β-地中海贫血   植入前遗传学诊断   HLA-配型   二代测序   单体型分析  

摘要： 目的探讨基于高通量测序(next-generation sequencing,NGS)的单核苷酸多态性(singlenucleotide polymorphism,SNP)单体型分析在β地中海贫血(简称β-地贫)暨HLA配型植入前遗传学诊断(preimplantation genetic diagnosis,PGD)中的应用.方法夫妇1同为βIVS2-654变异携带者,曾生育1重型β-地贫患儿;夫妇2分别为βCD41-42与βIVS2-654变异携带者;夫妇3分别为βCD17与βIVS2-654变异携带者,曾引产1双重杂合子胎儿.应用NGS-SNP单体型分析和Sanger测序技术,为夫妇1提供β-地贫-HLA的PGD,为夫妇2、3提供β-地贫PGD.结果夫妇1获得2枚HLA配型相符且不致病的囊胚,移植1枚并成功妊娠,产前诊断的结果与PGD一致,于孕39周分娩一健康新生儿,并取脐带血进行造血干细胞移植.夫妇2获得不致病囊胚7枚,第2次移植成功妊娠,产前诊断结果与PGD一致.夫妇3获得不致病且无致病性拷贝数重复和缺失的囊胚2枚,移植1枚成功妊娠,产前诊断结果与PGD一致.结论NGS-SNP单体型分析是β-地贫HLA配型PGD的有效工具,可帮助携带β-地贫变异的夫妇获得健康的胚胎,同时为患儿的造血干细胞移植治疗提供机会.

关键词： 特发性炎症性肌病   DNA甲基化   组蛋白修饰   微小RNA   长链非编码RNA   表观遗传学  

摘要： 特发性炎症性肌病(IIM)是一组病因未明的,以四肢近端肌无力为主的骨骼肌非化脓性炎症性疾病,主要有多发性肌炎、皮肌炎、包涵体肌炎、坏死性自身免疫性肌病等亚型,以多发性肌炎和皮肌炎最为常见。但迄今为止IIM的确切发病机制尚不清楚。表观遗传学是指在基因的DNA序列不发生改变情况下,基因表达水平与功能发生改变,并产生可遗传的表型。目前,表观遗传学方面的研究主要集中于DNA甲基化、组蛋白修饰和非编码RNA。它们之间相互影响、相互关联,任何一方面发生异常都将影响基因的表达及生物体的性状。因此,深入了解表观遗传学在IIM中的作用,有可能为IIM的诊断和治疗提供新的方向。

关键词： 复杂易位   染色体核型分析   CNV  

摘要： 目的探讨染色体复杂易位的断裂位点及细胞-分子遗传学特点,提高对染色体复杂易位的诊断能力。方法采集患儿及其父母外周血行淋巴细胞染色体核型分析,通过高通量测序染色体组拷贝数分析(CNV)确诊患儿为罕见的复杂易位。结果患儿外周血染色体核型分析结果为46,XY,t(3;5;5;12)(q23;q15;q31;p13),inv(6)(q13q27),父母染色体核型均正常;CNV检出患儿5q15q21.1(97100001-101920000)缺失4.82Mb,5q23.1q23.2(117200001-123180000)缺失5.98Mb,7q36.1q36.2(152540001-153400000)重复0.86Mb。结论结合多种检测技术可深入研究染色体复杂易位的细胞-分子遗传学特点。

关键词： 细菌遗传学   转座子   测序技术   全基因组   大规模平行测序   特点和应用  

摘要： 转座子测序(transposon sequencing,Tn-seq)是一系列将全基因组随机转座子突变和大规模平行测序(massively parallel signature sequencing,MPSS)结合使用的测序技术,现已广泛用于多种细菌物种,为各种重要生物过程相关基因的功能提供全面信息。现着重描述Tn-seq技术的原理、特点和应用等方面,阐述Tn-seq技术在细菌遗传学中的广泛应用和研究现状。

关键词： 银屑病   生物制剂   药物遗传学  

摘要： 研究者们发现IL-23/Th7轴在银屑病发病中具有中心地位,直接或间接靶向于此通路的生物制剂如TNF-α抑制剂、IL-12/23抑制剂、IL-17抑制剂等在治疗中重度银屑病中有明显疗效。药物遗传学通过研究药物疗效与不同个体之间基因多态性的关联,可以预测药物疗效的个体差异。生物制剂的药物遗传学研究和应用可以使银屑病的治疗更加合理及个体化,本文对生物制剂治疗银屑病的药物遗传学研究进行了综述。

关键词： 案例教学法   留学生   医学遗传学  

摘要： 随着留学生教育规模的不断扩大,留学生的教学质量得到了广泛的关注。本文详细阐述了在留学生《医学遗传学》教学中采用案例教学法授课的过程,并进行了案例教学的思考,旨在总结案例教学的经验,为留学生教学质量的提高提供参考。

关键词： HLA haplotype   Linkage disequilibrium   Family  

摘要： Since their inception, the International HLA & Immunogenetics Workshops (IHIW) served as a collaborative platform for exchange of specimens, reference materials, experiences and best practices. In this report we present a subset of the results of human leukocyte antigen (HLA) haplotypes in families tested by next generation sequencing (NGS) under the 17th IHIW. We characterized 961 haplotypes in 921 subjects belonging to 250 families from 8 countries (Argentina, Austria, Egypt, Jamaica, Germany, Greece, Kuwait, and Switzerland). These samples were tested in a single core laboratory in a high throughput fashion using 6 different reagents/software platforms. Families tested included patients evaluated clinically as transplant recipients (kidney and hematopoietic cell transplant) and their respective family members. We identified 486 HLA alleles at the following loci HLA-A, -B, -C, -DRB1, -DRB3, -DRB4, -DRB5, -DQA1, -DQB1, -DPA1, -DPB1 (77, 115, 68, 69, 10, 6, 4, 44, 31, 20 and 42 alleles, respectively). We also identified nine novel alleles with polymorphisms in coding regions. This approach of testing samples from multiple laboratories across the world in different stages of technology implementation in a single core laboratory may be useful for future international workshops. Although data presented may not be reflective of allele and haplotype frequencies in the countries to which the families belong, they represent an extensive collection of 3rd and 4th field resolution level 11-locus haplotype associations of 486 alleles identified in families from 8 countries.

关键词： Immunogenicity   Pharmacokinetics   Pre-existing reactivity   Antidrug antibodies   MHC class II  

摘要： Immunogenicity of biomolecules is one of the largest concerns in biological therapeutic drug development. Adverse immune responses as a result of immunogenicity to biotherapeutics range from mild hypersensitivity reactions to potentially life-threatening anaphylactic reactions and can negatively impact human health and drug efficacy. Numerous confounding patient-, product- or treatment-related factors can influence the development of an immune reaction against therapeutic proteins. The goal of this study was to investigate the relationship between pre-existing drug reactivity (PE-ADA), individual immunogenetics (MHC class II haplotypes), and development of treatment-induced antidrug antibodies (TE-ADA) in cynomolgus macaque. PE-ADA refers to the presence of antibodies immunoreactive against the biotherapeutic in treatment-naive individuals. We observed that PE-ADA frequency against four different bispecific antibodies in naive cynomolgus macaque is similar to that reported in humans. Additionally, we report a trend towards an increased incidence of TE-ADA development in macaques with high PE-ADA levels. In order to explore the relationship between MHC class II alleles and risk of ADA development, we obtained full-length MHC class II sequences from 60 cynomolgus macaques in our colony. We identified a total of 248 DR, DP, and DQ alleles and 236 unique haplotypes in our cohort indicating a genetically complex set of animals potentially reflective of the human population. Based on our observations, we propose the evaluation of the magnitude/frequency of pre-existing reactivity and consideration of MHC class II genetics as additional useful tools to understand the immunogenic potential of biotherapeutics.