59个Y-STR基因座的法医学多态性应用效能评估

为了评估法医学DNA数据库建设中涉及的59个Y-STR基因座的遗传多态性和法医学应用效能,通过AGCU Y SUPP PLUS试剂盒和AGCU Y37试剂盒检测374个广东汉族无关男性个体,将检测出的59个Y-STR基因座按照突变率的高低进行分类组合和统计分析。结果显示,59个Y-STR基因座联合运用在374个无关男性个体中检出了374个单倍型,其中44个中低突变Y-STR组合、15个高快突变Y-STR组合分别检出373和372个单倍型。59个Y-STR的基因多态性数值分布在0.055 1 (DYS645)~0.958 0 (DYF387S1 a/b)之间。结果表明,这59个Y-STR在广东汉族群体中均具有良好的多态性,按中低突变Y-STR组合和高快突变Y-STR组合研发新的检测体系可更好地满足法医实践的不同需求。     

A chromosome-level genome assembly enables the identification of the follicule stimulating hormone receptor as the master sex-determining gene in the flatfish Solea senegalensis

Sex determination (SD) shows huge variation among fish and a high evolutionary rate, as illustrated by the Pleuronectiformes (flatfishes). This order is characterized by its adaptation to demersal life, compact genomes and diversity of SD mechanisms. Here, we assembled the Solea senegalensis genome, a flatfish of great commercial value, into 82 contigs (614 Mb) combining long- and short-read sequencing, which were next scaffolded using a highly dense genetic map (28,838 markers, 21 linkage groups), representing 98.9% of the assembly. Further, we established the correspondence between the assembly and the 21 chromosomes by using BAC-FISH. Whole genome resequencing of six males and six females enabled the identification of 41 single nucleotide polymorphism variants in the follicle stimulating hormone receptor (fshr) consistent with an XX/XY SD system. The observed sex association was validated in a broader independent sample, providing a novel molecular sexing tool. The fshr gene displayed differential expression between male and female gonads from 86 days post-fertilization, when the gonad is still an undifferentiated primordium, concomitant with the activation of amh and cyp19a1a, testis and ovary marker genes, respectively, in males and females. The Y-linked fshr allele, which included 24 nonsynonymous variants and showed a highly divergent 3D protein structure, was overexpressed in males compared to the X-linked allele at all stages of gonadal differentiation. We hypothesize a mechanism hampering the action of the follicle stimulating hormone driving the undifferentiated gonad toward testis.     

草菇子实体多肽提取工艺及其抗氧化活性

为了优化草菇子实体多肽的提取工艺和探究其抗氧化活性,以草菇子实体为原料,采用酶解法提取草菇子实体多肽,通过单因素试验得出最佳的酶解工艺,并使用Box-Behnken设计试验组合。结果表明：草菇子实体提取多肽的最佳工艺为料液比1:52 (g/mL)、加酶量7 200 U/g、酶解温度43 ℃,此工艺条件下的多肽得率为67.76%。从1,1-二苯基-2-三硝基苯肼(DPPH)自由基清除能力、铁离子还原能力、超氧阴离子自由基清除能力和羟自由基清除能力4个方面研究其体外抗氧化能力,结果表明,草菇子实体多肽对DPPH自由基清除率为74.11%,超氧阴离子自由基和羟自由基清除率分别在69.64%和91.83%达到稳定,草菇子实体多肽还具有一定的还原力,说明草菇子实体多肽可以作为优质抗氧化肽的良好来源。该研究为草菇多肽的高效制备和抗氧化肽等高附加值产品的研发提供理论依据。     

Low genetic diversity and population connectivity fuel vulnerability to climate change for the Tertiary relict pine Pinus bungeana

Endemic species are important components of regional biodiversity and hold the key to understanding local adaptation and evolutionary processes that shape species distributions. This study investigated the biogeographic history of a relict conifer Pinus bungeana Zucc. ex Endl. confined to central China. We examined genetic diversity in P. bungeana using genotyping-by-sequencing and chloroplast and mitochondrial DNA markers. We performed spatial and temporal inference of recent genetic and demographic changes, and dissected the impacts of geography and environmental gradients on population differentiation. We then projected P. bungeana's risk of decline under future climates. We found extremely low nucleotide diversity (average π 0.0014), and strong population structure (global F_ST 0.234) even at regional scales, reflecting long-term isolation in small populations. The species experienced severe bottlenecks in the early Pliocene and continued to decline in the Pleistocene in the western distribution, whereas the east expanded recently. Local adaptation played a small (8%) but significant role in population diversity. Low genetic diversity in fragmented populations makes the species highly vulnerable to climate change, particularly in marginal and relict populations. We suggest that conservation efforts should focus on enhancing gene pool and population growth through assisted migration within each genetic cluster to reduce the risk of further genetic drift and extinction.     

13C-methacetin breath test parameter S for liver diseases diagnosis

The mechanism of ¹³C-methacetin breath test is set forth clearly with the analysis of pharmacokinetics mode, and the measuring method of ¹³C-methacetin breath test and its clinical applications in the diagnosis of liver diseases are reported in detail. On the basis of comprehensive analysis of the clinical test data, the advanced diagnostic parameter S is of important significance for the application and development of breath test.     

小鼠外胎盘锥细胞与层粘连蛋白相互作用机制的研究

本文用LN及含其活性位点序列的合成肽段cYIGSR和RGDS对小鼠EPC细胞与LN的相互作用机制进行研究。结果表明:合成肽段cYIGSR和RGDS能促进EPC粘附并具协同效应。cYIGSR还能促进EPC扩展与次生TGCs迁移。LNA链上RGD和B_1链上YIGSR两个活性位点协同地参与了LN对EPC的粘附、扩展以及次生TGCs的迁移的促进作用。cY R合用不能完全竞争性抑制EPC与LN的结合,说明还有其他作用位点存在。     

~(13)C-methacetin breath test parameter S for liver diseases diagnosis

The mechanism of 13C-methacetin breath test is set forth clearly with the analysis of pharmacokinetics mode, and the measuring method of 13C-methacetin breath test and its clinical applications in the diagnosis of liver diseases are reported in detail. On the basis of comprehensive analysis of the clinical test data, the advanced diagnostic parameter S is of important significance for the application and development of breath test.     

新生大鼠辣椒素处理后脊髓内阿片受体的变化

本实验用受体放射自显影方法,研究了新生大鼠辣椒素皮下注射,成年后脊髓内３Ｈ－埃托菲（３Ｈ－ｅｔｏｒｐｈｉｎｅ）结合位点数的变化。发现新生鼠辣椒素处理可以引起脊髓后角浅层及中央管周围’Ｈ－ｅｔｏｒｐｈｉｎｅ结合位点明显减,其中Ⅰ、Ⅱ层自显影银粒数减少３６％左右。Ⅲ层减少２０％,中央管周围减少１１％。而前角及背外测束３Ｈ－ｅｔｏｒｐｈｉｎｅ结合位点数无显著性差异。结果表明脊髓内初级感觉传入细纤维上有阿片受体分布。本研究为探明阿片类物质在脊髓水平的痛觉调控机制提供一定的形态学依据。     

鸣禽控制发声核团和脑干听觉核团及神经通路的综合研究

采用辣根过氧化物酶顺、逆行标记方法对鸣禽鸟蜡嘴雀控制发声的神经核团、脑干听觉核团及神经通路,从外周至中枢逐级进行了追踪研究。结果表明：１．控制发声的神经核团及通路,前脑古纹状体腹内侧粗核是大脑控制发声的重要核团之一,它发出枕中脑后束经端脑前联合呈双侧支配延脑中间核,中间核又发出舌下神经经气管鸣管分支支配鸣肌,中间核同时也接受中脑背内侧核的支配,２．脑干听觉中枢及通路,中脑背外侧核是脑干较高级听觉中枢、初级中枢耳蜗核由角核和前庭外侧核组成,ＮＡ发出以对侧为主的纤维经外侧丘系可直接传入中脑背外侧核形成脑干听觉直接通路。