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关键词： 突变   基因组演化   进化生物学   遗传学  

摘要： 基于国际上最新的突变研究结果,本文探讨了突变的发生是否随机这一高中生物学教材中涉及的内容。与教材论述不同,突变的发生不仅不是随机的,而且还是有发生模式和可预测的;DNA水平上的突变也是有方向的,并且突变的频率和方向会受外界环境条件影响。

关键词： 中医学   心理学   不内外因  

摘要： 【はじめに】今、日本では「3人に1人が花粉症」と言われる。多くはスギ花粉が原因とされ、その治療は主に、症状に対する、抗ヒスタミン薬などを用いた対症療法が行われている。本来、根本治療法が必要なことは明白であり、そのため天然スギ花粉の抽出液を頻回に注射(皮下免疫療法)し身体を花粉に慣らす減感作療法(アレルゲン免疫療法)があるが、近年は治療薬(液状/タブレット)を舌の下に投与する「舌下免疫療法」が主流で自宅で服用可能となった。

关键词： 腺苷酸环化酶5   遗传变异   糖代谢   妊娠期糖尿病   2型糖尿病   遗传学  

摘要： 腺苷酸环化酶5 (adenylate cyclase 5,ADCY5)是膜结合型腺苷酸环化酶家族的成员之一,它把三磷酸腺苷转化为第二信使环磷酸腺苷(cyclic adenosine monophosphate,cAMP)和焦磷酸盐。c AMP本身是糖代谢和脂代谢的关键调节因子。一些ADCY5基因遗传变异与糖代谢相关指标、2型糖尿病和妊娠期糖尿病相关。功能研究显示ADCY5可能通过在人类胰岛中葡萄糖偶联的胰岛素分泌影响糖代谢。目前ADCY5的遗传学研究主要集中在欧洲血统的成人的非妊娠人群中,因此将来需要在非欧洲血统的人群、妊娠妇女、儿童和青少年中大量开展ADCY5基因的遗传学研究,以进一步阐明其在糖代谢中的作用机制。

关键词： 医学遗传学   图示教学法   Lyon   假说  

摘要： 实践证明图示教学法是一种非常实用而高效的教学方法。Lyon假说是医学遗传学的重难点,但大部教材只有假说内容的文字描述,学生接受和理解有一定难度。为完善和优化教学内容、提高课堂教学质量,在医学遗传学教学中尝试将假说内容文字语言图示化后应用于课堂教学,并取得了良好的教学效果。现整理成文供同行交流探讨,同时也期望为这一内容的教材编写提供些许启示。

关键词： 北京协和医学院   中国共产党   北京协和医院   优生优育   在校期间   科学家   遗传学   林巧稚  

摘要： 中国共产党优秀党员,著名妇产科学家、优生优育及遗传学家,北京协和医院妇产科教授孙念怙同志,因病于2019年8月17日2时50分逝世,享年90岁。孙念怙教授1929年12月5日出生于江苏无锡,1946年考入上海沪江大学医预系,在校期间担任学生会主席,并于1949年4月1日加入中国共产党。1949年转入北京协和医学院,1954年以优异的成绩毕业,师从著名妇产科专家林巧稚教授。

关键词： 复发性流产   植入前胚胎遗传学筛查   整倍体   种植率   临床妊娠率  

摘要： 目的:探讨胚胎植入前遗传学筛查技术对复发性流产患者妊娠结局的影响。方法:对复发性流产患者随机分组,对照组进行常规的体外受精胚胎移植,筛查组进行胚胎植入前遗传学筛查,比较两组妊娠结局。结果:筛查组40个治疗周期共活检212枚胚胎,其中整倍体胚胎115枚(54.2%),非整倍体胚胎97枚(45.8%);筛查组胚胎种植率和临床妊娠率(68.6%、35.3%)高于对照组(68.6%、52.8%),早期流产率(12.5%)低于对照组(26.3%)(P<0.05)。结论:对复发性流产患者行胚胎植入前遗传学筛查,选择整倍体胚胎移植,可提高种植率和临床妊娠率,降低早期流产率。

关键词： 卵穗山羊草   异附加系   原位杂交   分子标记   抗病性  

摘要： 卵穗山羊草中蕴含着许多小麦改良所需的优良基因,是小麦重要的三级基因库。为了解其更多遗传特性,本研究利用细胞学、原位杂交、分子标记、形态学和抗病性鉴定等技术对小麦-卵穗山羊草SY159的衍生后代1003进行鉴定。细胞学鉴定结果表明,1003含有44条染色体,减数第一次分裂中期含有22个二价体且配对良好,减数第一次分裂后期含有44条染色体且均等分离;基因组原位杂交(Genomic in situ hybridization,GISH)分析显示,1003含有42条小麦染色体和2条卵穗山羊草染色体;EST和PLUG分子标记分析表明,导入的染色体属于7M染色体;荧光原位杂交(Fluorescence in situ hybridization,FISH)分析表明,1003中含有38条与中国春标准核型相一致的染色体,4A、5A和7M的FISH信号有变异;苗期抗病性鉴定结果表明,1003对白粉病生理小种E09免疫,对条锈病生理小种条中23(CYR23)高抗;形态学调查表明,1003的农艺性状介于双亲之间,千粒重高于双亲。因此,1003是一个具有白粉病和条锈病抗性的小麦-卵穗山羊草二体异附加系,可为小麦品种改良和抗病育种提供新的种质资源。

关键词： HLA   Ageing   Longevity   NGS  

摘要： The 'Immunogenetics of Aging' project is a component introduced in the 14th International HLA and Immunogenetics Workshop (IHIW) and developed further within subsequent workshops. The aim was to determine the relevance of immunogenetic markers, focusing on HLA, cytokine genes, and some innate immunity genes, for successful aging and an increased capacity to reach the extreme limits of life-span. Within the 17th IHIW we applied Next Generation Sequencing methods to refine further HLA associations at allele level in longevity, and to extend our knowledge to additional loci such as HLA-DQA1, HLA-DPB1 and HLA-DPA1. Analysis of relatively small number of healthy elderly and young controls from four populations showed that some HLA class I and class II alleles were significantly positively associated with healthy aging. Additionally we observed statistically significant differences in HLA allele distribution when the analysis was performed separately in elderly females and males compared to sex-matched young controls. Haplotypes, probably associated with better control of viral and malignant diseases were increased in the elderly sample. These preliminary NGS data could confirm our hypotheses that survival and longevity might be associated with selection of HLA alleles and haplotypes conferring disease resistance or susceptibility. Therefore HLA alleles and haplotypes could be informative immunogenetic markers for successful ageing.

关键词： Immunotherapy   Check-point inhibitors   Predictive factors   Germinal immunogenetics  

摘要： Clinical response to checkpoint inhibitors-based (CPIs) therapies can vary among tumor types and between patients. This led to a significant amount of pre-clinical and clinical research into biomarker identification. Biomarkers have been found to cover both the tumor itself and the tumor microenvironment. Entering host related parameters into the equation should provide a valuable strategy for identifying not only factors predictive of treatment efficacy but also of treatment-related toxicity. It is clear that germline variants can offer efficient and easily-assessable indicators (blood DNA) to enlarge the spectrum of predictive markers for CPI based treatment. A major issue concerns the real functional significance of the reported single-nucleotide polymorphisms (SNPs) linked to CPI-treatment outcome. Powered calculations should lead to an optimal trade-off between sample size and allele frequency. New molecular technologies and new analytical methods should provide opportunities to bridge the knowledge gap between SNP-CPI treatment associations and the functional impact of these SNPs.

关键词： Sociology   Social research   Ancestry Testing   Genetic Options Theory   Hispanic Identity   Racial Identity  

摘要： The purpose of this research is to investigate how genetic ancestry tests can affect personal identity. Forty individuals from the cities of Topeka, Kansas City, and Lawrence who identified as primarily Black, White, or Hispanic were interviewed before and after taking a commercially-available ancestry test. The findings of this study suggest that participants selectively chose certain results to incorporate into their identity rather than accepting the entire test. Group membership strongly indicated the reasons for why participants took the test and how they reacted to the results. White participants took these tests seeking new racial labels to differentiate themselves from simply being "White". Black participants took these tests seeking to identify ancestral genetic narratives to better inform their Black identity. Hispanic individuals had more ambiguous reasons for taking the test, as some approached the test seeking new identities while others did so to acquire ancestral genetic narratives. White individuals incorporated certain test results into their identity to make them appear more diverse while Hispanics and Blacks subsumed certain results into their identity to better inform it.