基于数据挖掘分析何泽云教授治疗CKD的用药规律

目的 基于数据挖掘方法分析何泽云教授治疗慢性肾脏疾病（chronic kidney disease,CKD）的用药规律。方法 收集何泽云教授治疗CKD病例336份,处方1 110张,采用SPSS 17.0及数据挖掘软件clementine 12.0分别对处方进行频次分析和关联规则分析。结果 单味药使用频次由高到低依次是白茅根、山药、黄精、熟地黄、黄芪,使用频率最高的类别是补益类药物（总频率达49.6%）;关联规则分析结果显示,支持度较高的药对依次为白茅根-山药、白茅根-麦冬、白茅根-黄精、白茅根-熟地黄、白茅根-黄芪、山药-黄精、山药-熟地黄。结论 何泽云教授以培元固本,健脾补肾为基本治疗大法,辅以固精、滋阴、泄浊之法论治CKD,数据挖掘方法对于中医临床经验总结具有重要实用价值,为中医治疗CKD用药筛选及中药研发提供思路。     

瓦氏雅罗鱼耐碱性状相关分子标记的筛选

本研究以来自达里湖(碱水)和松花江(淡水)的瓦氏雅罗鱼(Leuciscus waleckii)杂交F2为实验材料,通过碱度耐受实验进行性状测定,以39对多态的EST-SSR和SSR为标记,对77个F2个体进行基因分型,根据Fisher确切概率法对F2基因型和耐碱性状进行关联分析。结果发现,有2个标记与耐碱性状显著相关(P0.05),其中1个标记为EST-SSR,从瓦氏雅罗鱼转录组数据库中调取该EST序列,基因注释结果显示该序列与团头鲂(Megalobrama amblycephala)低氧诱导因子HIF-3?基因、草鱼的低氧诱导因子HIF-4?基因具有很高的同源性。该基因的主要功能是参与鱼类的耐低氧反应过程,加强鱼类的耐低氧能力。本研究对于今后深入研究此功能基因的作用机制及培育适于盐碱水域养殖的鱼类新品种具有重要的意义。     

Linking temperate demersal fish species to habitat: scales,patterns and future directions

Adoption of the ecosystem approach to fisheries management relies on recognition of the link between fish and other components of the ecosystem, namely their physical and biological habitat. However, identifying the habitat requirements of marine fishes and hence determining their distribution in space and time is scientifically complex. We analysed the methodologies and findings of research on temperate, demersal fish habitat requirements to highlight the main developments in this field and to identify potential shortfalls. Many studies were undertaken over large spatial scales (≥100s km²) and these generally correlated abundances of fish to abiotic variables. Biological variables were accounted for less often. Small spatial scale (≤m²), experimental studies were comparatively sparse and commonly focused on biotic variables. Whilst the number of studies focusing on abiotic variables increased with increasing spatial scale, the proportion of studies finding significant relationships between habitat and fish distribution remained constant. This mismatch indicates there is no justification for the tendency to analyse abiotic habitat variables at large spatial scales. Innovative modelling techniques and habitat mapping technologies are developing rapidly, providing new insights at the larger spatial scales. However, there is a clear need for a reduction in study scale, or increase in resolution additional to the integration of biotic variables. We argue that development of sound predictive science in the field of demersal fish habitat determination is reliant on a change in focus along these lines. This is especially important if spatial management strategies, such as Marine Protected Areas (MPA) or No Take Zones (NTZ), are to be used in future ecosystem‐based approaches to fisheries management.     

国红苹果园土壤中微量元素的周年变化规律及相关性分析

为探明幼龄和成龄国红苹果园不同土层土壤中微量元素的动态变化规律,在河北省农林科学院石家庄果树研究所苹果标本实验园内,分别采集了幼龄和成龄国红苹果园0～20,20～40,40～60 cm土层的土壤样品,通过VISTA-MPX等离子光谱仪对国红苹果土壤中5种微量元素进行了含量测定,采用SPSS软件进行多元统计分析和相关性分析。结果表明,整个生长周期内幼龄和成龄国红苹果园土壤硼元素含量均呈波动性起伏变化的动态规律,而铁、锌元素则无明显变化。典型性相关分析表明,0～20 cm土层锰元素之间、锌元素之间均呈显著正相关,20～40 cm土层锌元素之间、硼元素之间呈显著正相关,40～60 cm土层幼龄和成龄各元素之间无相关性。可为指导果园优质栽培和研究不同栽培措施对改善优化国红苹果园土壤中微量元素含量提供科学的理论依据。     

全基因组关联分析鉴别白色杜洛克×二花脸F2资源家系中猪阴囊疝易感基因位点的鉴定

【目的】通过基于单倍型的病例-对照全基因组关联分析(GWAS)鉴别白色杜洛克×二花脸F2资源家系中影响猪阴囊疝的易感位点及位置功能候选基因,并在远缘纯种猪阴囊疝三联体核心家系（Trio）群体中进行重复验证。【方法】利用Illumina porcine 60K SNP芯片对1 020头白色杜洛克×二花脸F2资源家系阴囊疝群体(包含19个阴囊疝患病个体)进行扫描获取基因型。通过Plink v1.07软件对基因型数据进行质量控制;剔除个体基因型检出率< 90%的个体,剔除SNP位点检出率< 90%、哈迪温伯格平衡卡方检验P≤10-3和最小等位基因频率< 0.05及性染色体上和无法定位的SNP位点。质控合格的SNP位点用PHASEBOOK构建出F2资源家系中每个个体的单倍型,并采用隐马尔可夫模型将其归类到数目预先定义的祖先单倍型中。使用基于广义线性混合模型的GLASCOW软件进行利用祖先单倍型的病例-对照全基因组关联分析。采用保守的Bonferroni校正方法得到基因组显著水平和染色体显著水平的阈值。对F2资源家系中达到染色体显著水平的易感SNP位点在包含237个患病个体的远缘纯种猪阴囊疝三联体核心家系(Trio)群体中进行同样的质控,并利用Haploview软件对质控合格的SNP位点分别展开基于单点和基于单倍型的传递不平衡分析(TDT),进行重复验证。【结果】白色杜洛克×二花脸F2资源家系中全部个体的38 033个SNP标记通过质控。在GWAS分析中,共发现108个达染色体显著水平(P<2.63×10-5)的猪阴囊疝关联SNP位点,分别位于染色体2、8和17上,最强相关的SNP位点位于17号染色体上。在远缘三联体核心家系群中,724个个体的96个SNP位点通过质控。对质控合格的SNP位点进行基于单点的TDT分析,结果发现5个显著相关的SNP位点得到重复验证(P<0.05),其中2号染色体上有1个SNP位点和17号染色体上有4个SNP位点,分别位于IQGAP2,CHMP4B,SERINC3,ZNF334 等4个基因内或其上下游。基于单倍型的TDT验证分析发现两个易感单倍型框,其中与基于单点TDT验证分析有重合的仅有SSC17上CHMP4B内及下游的两个易感位点。结合疝气发生机制及TDT分析结果,推测IQGAP2和CHMP4B可能是影响猪阴囊疝发生的两个重要的位置功能候选基因。【结论】本研究利用基于小样本的GWAS分析和较大样本群验证分析,在SSC2和SSC17上分别鉴别1个和4个阴囊疝易感位点,在SSC17上鉴别到两个易感单倍型。易感位点附近的2个基因IQGAP2和CHMP4B可能是影响猪阴囊疝发生的位置功能候选基因,值得进一步研究。     

利用高密度SNP对猪血糖和糖基化血清蛋白性状的全基因组关联分析

【目的】测定苏太猪和白色杜洛克×二花脸F₂资源家系240 d血糖（glucose,GLU）和糖基化血清蛋白（glycosylated serum proteins,GSP）浓度,采用全基因组关联分析定位影响GLU和GSP的染色体位点,为最终鉴别影响该性状的因果基因奠定基础,同时为人类低血糖症和糖尿病的遗传学研究提供参考。【方法】分别将435头苏太猪和760头白色杜洛克×二花脸F2资源家系F₂个体在相同条件下饲养至240日龄进行统一屠宰,收集血液后分离血清,利用全自动生化分析仪测定GLU和GSP浓度。采集猪只耳组织提取DNA并测定DNA浓度。将质检合格的DNA样品利用Illumina porcine 60K SNP芯片判定基因型。运用PLINK软件对SNP判型结果进行质控,将合格的SNP标记用于后续的关联性分析,利用广义混合线性模型及R语言GenABEL软件包进行全基因组关联分析,定位影响苏太猪和白色杜洛克×二花脸F₂资源家系240 d血清GLU和GSP含量的染色体位点。根据全基因组关联分析结果从Ensembl或NCBI网站上分析可能的位置候选基因。【结果】全基因组关联分析共检测到5个与血清GLU和GSP达染色体显著水平相关的SNP位点。其中白色杜洛克×二花脸F₂资源群体在10号染色体（SSC10）24.67Mb处定位到与血清GSP含量显著相关的SNP（ALGA0057739,P=1.58×10^-5）,解释表型变异为3.72%。苏太猪群体共检测到2个与血清GSP显著相关的SNP（ALGA0108699和DRGA0017552,P=1.45×10^-5）,解释表型变异均为3.72%。使用猪参考基因组序列（10.2版本）,无法定位到具体的染色体位置。通过人、猪比较基因组分析,这两个SNP都位于SSC8,距STPG2基因3’端约180.0-193.0 kb。将两个群体进行Meta分析,未发现新的与GSP显著相关的SNP;在1号染色体250.32Mb处（DRGA0002016,P=2.48×10^-5）和14号染色体43.97Mb处（ASGA0062984,P=1.29×10^-5）,定位到与血清GLU显著相关的SNP。通过搜寻显著相关SNP所在染色体区域内的注释基因,发现ASPM、TRPM3和KCTD10 等基因是影响血清GSP和GLU的重要候选基因。【结论】检测到5个显著影响猪血清GLU和GSP的SNP位点。这些SNP位点所处染色体区域内的ASPM、TRPM3、STPG2和KCTD10基因是影响血清GSP和GLU的重要候选基因。     

Depth, temperature and salinity preferences of newly recruited penaeid shrimps in Kuwait waters

Associations between catches and depth, temperature and salinity data obtained from the 1994–97 preseason shrimp trawl surveys in Kuwait waters were analysed using cumulative distribution functions and overlap coefficients. No single environmental factor had a controlling influence on shrimp distribution. Shrimp associations with the joint distributions of two environmental variables were stronger and more consistent over time than those with any single environmental factor. All three shrimp species examined in this study were significantly associated with the joint distributions of depth and temperature, and depth and salinity, indicating depth as the most influential factor in structuring the shrimp distributions during the surveys. Metapenaeus affinis and Parapenaeopsis stylifera were distributed at similar ranges of depth (8–15 m), temperature (26–31°C) and salinity (35–41‰), and had very high overlap coefficients. These two species can be categorized as co-occurring species in the sampled area. Penaeus semisulcatus had the widest range of the three environmental variables investigated in this study, particularly depth (8–32 m) and temperature (24–32°C).     

小麦转录因子基因W16的功能标记作图和关联分析

【目的】开发小麦DREB转录因子基因W16的功能标记,进行遗传作图,并结合表型性状关联分析,为利用分子标记进行小麦遗传改良提供依据。【方法】以六倍体普通小麦及其野生近缘种的二倍体和四倍体为材料,克隆W16的DNA序列;根据序列多态性设计分子标记;利用中国春缺四体材料对基因进行染色体定位,用DH群体（旱选10号×鲁麦14）进行精细定位并作图;以154份六倍体普通小麦材料构成的自然群体分析表型性状与基因单倍型的关联特性。【结果】利用中国春缺四体材料先将W16定位在1A染色体上。后利用DH群体将W16定位于染色体1A的CWM517和WMC20标记之间,距左、右标记的遗传距离分别为7.8 cM和19.4 cM。在小麦自然群体中共检测到W16的3种单倍型,分别与单株穗数、穗粒数、每穗小穗数和籽粒饱满度关联。【结论】确定了W16所在的染色体位置,鉴定出HapⅡ为增加单株穗数和籽粒饱满度的优良单倍型,HapⅢ为提高穗粒数的优良单倍型,该基因的功能标记和关联分析结果为小麦分子育种提供了重要信息。     

沙棘自然演替规律初探

沙棘是阳性树种,通过风、鸟、兽等传播,首先侵入,然后占领地盘,大量萌生形成团块或片状沙棘林,随之从中间开始稀疏死亡,逐渐退出,土壤得到改良肥化,被其他树种侵入代替,再通过风、鸟、兽等传播,侵入新的地点,形成新的沙棘林分,重复以上演替过程。     

Power of a genome scan to detect and locate quantitative trait loci in cattle using dense single nucleotide polymorphisms

There is increasing use of dense single nucleotide polymorphisms (SNPs) for whole‐genome association studies (WGAS) in livestock to map and identify quantitative trait loci (QTL). These studies rely on linkage disequilibrium (LD) to detect an association between SNP genotypes and phenotypes. The power and precision of these WGAS are unknown, and will depend on the extent of LD in the experimental population. One complication for WGAS in livestock populations is that they typically consist of many paternal half‐sib families, and in some cases full‐sib families; unless this subtle population stratification is accounted for, many spurious associations may be reported. Our aim was to investigate the power, precision and false discovery rates of WGAS for QTL discovery, with a commercial SNP array, given existing patterns of LD in cattle. We also tested the efficiency of selective genotyping animals. A total of 365 cattle were genotyped for 9232 SNPs. We simulated a QTL effect as well as polygenic and environmental effects for all animals. One QTL was simulated on a randomly chosen SNP and accounted for 5%, 10% or 18% of the total variance. The power to detect a moderate‐sized additive QTL (5% of the phenotypic variance) with 365 animals genotyped was 37% (p < 0.001). Most importantly, if pedigree structure was not accounted for, the number of false positives significantly increased above those expected by chance alone. Selective genotyping also resulted in a significant increase in false positives, even when pedigree structure was accounted for.