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关键词： 医学细胞生物与遗传学   整合课程   教材建设  

摘要： 为了适应培养现代化高素质合格医学人才的需要,将医学细胞生物学和医学遗传学两门课程深度融合成为一门课程,即医学细胞生物与遗传学。目前,基于医学本科的医学细胞生物与遗传学整合式课程的"纸质教材+新媒体资源"新形态教材的建设仍是空白,因此,编写规范合理的、适用性较强的医学细胞生物与遗传学教材,对于提高整合课程的教学效果十分必要。

关键词： 医学遗传学   杂志   计划生育工作者   稿约   中华医学会   人类遗传学   四川大学   临床实践  

摘要： 《中华医学遗传学杂志》是中华医学会主办、四川大学编辑出版的学术性期刊。主要报道我国医学遗传学和人类遗传学以及相关领域中的基础理论、临床实践、技术方法等的最新研究成果。以从事医学遗传学工作的各科医师、计划生育工作者、大专院校和科研单位有关人员为主要读者对象。

关键词： NGS HLA typing   Proficiency testing   Reference cell panel   Quality control  

摘要： The 17th International HLA and Immunogenetics Workshop (IHIW) organizers conducted a Pilot Study (PS) in which 13 laboratories (15 groups) participated to assess the performance of the various sequencing library preparation protocols, NGS platforms and software in use prior to the workshop. The organizers sent 50 cell lines to each of the 15 groups, scored the 15 independently generated sets of NGS HLA genotyping data, and generated "consensus" HLA genotypes for each of the 50 cell lines. Proficiency Testing (PT) was subsequently organized using four sets of 24 cell lines, selected from 48 of 50 PS cell lines, to validate the quality of NGS HLA typing data from the 34 participating IHIW laboratories. Completion of the PT program with a minimum score of 95% concordance at the HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci satisfied the requirements to submit NGS HLA typing data for the 17th IHIW projects. Together, these PS and PT efforts constituted the 17th IHIW Quality Control project. Overall PT concordance rates for HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB3, HLA-DRB4 and HLA-DRB5 were 98.1%, 97.0% and 98.1%, 99.0%, 98.6%, 98.8%, 97.6%, 96.0%, 99.1%, 90.0% and 91.7%, respectively. Across all loci, the majority of the discordance was due to allele dropout. The high cost of NGS HLA genotyping per experiment likely prevented the retyping of initially failed HLA loci. Despite the high HLA genotype concordance rates of the software, there remains room for improvement in the assembly of more accurate consensus DNA sequences by NGS HLA genotyping software.

摘要： Given a statistical model that attempts to explain the data, calculating the Bayes' posterior distribution of the models parameters is desirable. The marginal likelihood of the model is also of interest, which is used for model comparison. However, for most applications, only estimates of these two measurements can be obtained with a class of methods that give consistent estimates being Monte Carlo algorithms. This thesis attempts to improve both the process in inferring a high-dimensional posterior distribution and the corresponding model marginal likelihood, on the con- dition that we can define an ordered set of statistical models in which deterministic transformations between each adjacent model can be applied. We propose an adap- tion of the sequential Monte Carlo algorithm, which we term the "transformation Sequential Monte Carlo" algorithm. The key feature of this algorithm is by defining a series of target distributions, that make use of said mentioned model transformations, we aim to infer high dimensional models by using easier to estimate posteriors from lower dimensional models with a model transformation applied. Our proposed algorithm has advantages over many established MC methods. One notable advantage is that we can tailor the algorithm if we wish to update a posterior distribution by including additional observations, but these observations also correspond to a new parameter set that needs to be inferred. Alternatively it is useful where the parameter space can become too large to explore using basic MC methods, for example if there exists an exponential or factorial relationship with observation size and the number of discrete values, but using a lower dimensional model and incorporating it into the model exploration assists with convergence. We test these strengths of tSMC under three applications, which include two population genetics applications being ancestral reconstruction under the coalescent and the other being the Structure algorithm.

关键词： Ovine behaviour   Ovine genetics   Animal welfare Western Cape   Sheep industry Production practices   Sheep Breeding   UCTD  

摘要： Data were collected on a Merino resource flock on the behaviour of ewes and lambs from 1993 to 2002. This flock was divergently selected from the same base population since 1986 for the number of lambs weaned per mating (NLW). Selection resulted in two selection lines, namely the High line (H line, upward selection for NLW) and the Low line (L line, downward selection for NLW). Additionally, the effect of these behaviours and selection lines were reported for NLW and lamb survival, as a key welfare indicator trait. Data from arena behaviour on Merino weaners were also collected over a 15-year period using the same resource population divergently selected for NLW. Ram lambs, progeny of mature ewes and singles were heavier at birth than ewe lambs, progeny of young and old ewes and multiples respectively. H line lambs had shorter lengths of parturition than L line lambs, where this difference was also found in H line and L line ewes. The effects of dam age were significant for the latency from birth to suckling as it improved with ewe age, and in both ewe and lamb studies H line ewes had better maternal cooperation scores than L line ewes. Maternal cooperation also had a significant effect on the latency for the lamb to progress from birth to suckling and maternal cooperation score improved with age in ewes. H line ewes had an improved NLW compared to L line ewes while H line lambs had a better survival. For production traits, H line lambs derived from embryo transplants were heavier at yearling age, had a lower fibre diameter, less wrinkles at the neck, body, breech and overall when compared to L line lambs. Survival of lambs reared by surrogate dams was higher in the H line than in the L line. Single-trait direct heritability estimates (h²) in lambs were 0.15 for birth weight, 0.07 for lamb survival, 0.06 for length of parturition, 0.12 for latency from birth to suckling and 0.00 for maternal cooperation score. Direct heritability estimates, assessed as trait of the

关键词： acute myeloid leukemia   cytogenetically normal   FLT3-ITD   hematopoietic cell transplant   NPM1  

摘要： Objective In individuals with cytogenetically normal (CN) AML, disease risk is estimated using molecular features such as the status of NPM1 and FLT3-ITD genes. However, data regarding the impact of NPM1 and FLT3-ITD status on hematopoietic stem cell transplant (HCT) outcomes are limited. We examined the effect of NPM1 and FLT3-ITD status on transplant outcomes in 131 CN AML patients transplanted at Princess Margaret Hospital between 2006 and 2017. Methods Overall survival (OS) was calculated using Kaplan-Meier analysis and multivariable Cox proportional hazards regression. Cumulative incidence of relapse (CIR) and non-relapse mortality (NRM) were calculated using competing risk regression. Results There was no difference in 3-year OS among NPM1(+)/FLT3-ITD-, NPM1(-)/FLT3-ITD-, NPM1(+)/FLT3-ITD+ and NPM1(-)/FLT3-ITD+ patients: 56% (95% CI, 29%-76%), 61% (95% CI, 46%-73%), 53% (95% CI, 34%-70%) and 52% (95% CI, 17%-78%), respectively. CIR at 3-years was similar among NPM1(-)/FLT3-ITD-, NPM1(+)/FLT3-ITD+ and NPM1(-)/FLT3-ITD+ patients-14% (95% CI, 6%-26%), 13% (95% CI, 4%-28%) and 19% (95% CI, 4%-41%), respectively-while there were no relapses in the NPM1(+)/FLT3-ITD- group. NRM at 3 years for NPM1(+)/FLT3-ITD-, NPM1(-)/FLT3-ITD-, NPM1(+)/FLT3-ITD+ and NPM1(-)/FLT3-ITD+ patients was similar at 44% (95% CI, 19%-67%), 38% (95% CI, 25%-50%), 43% (95% CI, 25%-59%) and 44% (95% CI, 14%-71%), respectively. Conclusion NPM1 and FLT3-ITD status may provide limited prognostic information about transplant outcomes in CN AML patients.

关键词： Parasites   Macroparasites   Trophic ecology   Morphology   Immunogenetics  

摘要： Differences in habitat and diet between species are often associated with morphological differences. Habitat and trophic adaptation have therefore been proposed as important drivers of speciation and adaptive radiation. Importantly, habitat and diet shifts likely impose changes in exposure to different parasites and infection risk. As strong selective agents influencing survival and mate choice, parasites might play an important role in host diversification. We explore this possibility for the adaptive radiation of Lake Tanganyika (LT) cichlids. We first compare metazoan macroparasites infection levels between cichlid tribes. We then describe the cichlids' genetic diversity at the major histocompatibility complex (MHC), which plays a key role in vertebrate immunity. Finally, we evaluate to what extent trophic ecology and morphology explain variation in infection levels and MHC, accounting for phylogenetic relationships. We show that different cichlid tribes in LT feature partially non-overlapping parasite communities and partially non-overlapping MHC diversity. While morphology explained 15% of the variation in mean parasite abundance, trophic ecology accounted for 16% and 22% of the MHC variation at the nucleotide and at the amino acid level, respectively. Parasitism and immunogenetic adaptation may thus add additional dimensions to the LT cichlid radiation.

关键词： anthropological genetics   genetic epidemiology   human genetic variation   guide to anthropological genetics   biological variation   human evolution   human population history   demographic history   human variation and genetics   human genetics   genetics   human paleontology   genetic variations   guide to genetics   guide to anthropological genetics   understanding human genetics   macroevolution   phylogenetics   microevolution   phylogeography   human adaptation   anthropology   physical anthropology   genetic variation in humans   molecular archaeology   ancient DNA analysis   American Association of Anthropological Genetics (AAAG)   human biology   biology and genetics  

ISBN: (数字)9781118768853 ISBN: (纸本)9781118768990

摘要： Explore the latest research in anthropological genetics and understand the genome’s role in cultural and social development A Companion to Anthropological Genetics illustrates the role of genetic analysis in advancing the modern study of human origins, populations, evolution, and diversity. Broad in scope, this essential reference work establishes and explores the relationship between genetic research and the major questions of anthropological study. Through contributions by leading researchers, this collection explores molecular genetics and evolutionary mechanisms in the context of macro- and microevolution, paleontology, phylogeny, diet, and disease, with detailed explanations of quantitative methods, including coalescent and approximate Bayesian computation. With an emphasis on contextualizing new and developing genetic research within anthropological frameworks, this text offers critical perspective on the conditions of molecular evolution that accompany cultural and social transformation, while also addressing critical disciplinary questions, such as the ethical issues surrounding ancestry testing and community-based genetic research. Acts as an essential reference on the contributions of genetic science to the field of anthropology Features new work by leading researchers of the field Explores the evolution of immunity, including the genetics and epigenetics of pathogens, chronic illness, and disease resistance Provides in-depth examination of mutation and dietary adaptation, including AMY1 , lactase persistence, and sensory polymorphisms Explains essential quantitative and phylogenetic methods for aligning genomic analysis with evolution and migration time scales Offering thorough coverage on leading questions and developing research, A Companion to Anthropological Genetics is a comprehensive resource for students and scholars.

关键词： 二项式   遗传学   组合概率   非组合概率  

摘要： 对二项式通项公式在遗传学计算中的运用进行分析和归纳,总结出遗传学中涉及组合概率的简捷计算方法和途径,对讲授遗传学的教师和学习遗传学课程的学生分析遗传学习题、提高解析遗传学习题的效率具有一定的参考价值。