植物种质群体遗传结构改变的测度

本文旨在探讨植物种质资源保存中由于人为和自然缘故导致遗传结构改变的评价指标和评价方法.在介绍植物种质资源保存研究一些基本概念的基础上,归纳了测度种质库(收集品)遗传潜势的6种遗传多样性统计指标,包括同一变异层次的类型数、类型分布均衡度、遗传相似性与遗传距离、遗传方差与遗传变异系数、多元变异指数以及亲本系数.指出若无遗传丰富度相伴,单有遗传离散度并未提供遗传多样性的完整测度.探讨了人为条件导致植物种质资源遗传结构改变的遗传流失、环境胁迫所致植物种质资源遗传结构改变的遗传脆弱性和种子扩繁所引发的植物种质资源遗传结构改变的遗传漂变和遗传漂移等的统计指标.文末给出了自花授粉植物和异花授粉植物群体适宜样本容量研究的个例.     

Genetic management of nonhuman primates

Genetic management is widely recognized as a critical component of the overall management of captive nonhuman primate colonies which produce animals for biomedical research. In this paper, we review the roles of conservation-oriented genetic management, research-oriented genetic management, genetic management at the level of taxomomic class, genetic management at the level of the population, and quantitative genetic analysis in comprehensive genetic management programs for nonhuman primate colonies. We conclude that genetic management is crucial for maintaining nonhuman primate populations suitable for genetic research on normal and disease-related phenotypes. In addition, for research programs that do not have specific genetic objectives, genetic management is essential to facilitate the selection of samples of well-matched unrelated animals for experimental purposes.     

Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective,Longitudinal Study

Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants'' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients'' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results.     

论克隆植物的遗传多样性

概述了克隆植物的类型与特点 ,对克隆植物的遗传多样性及其遗传结构的一些特点进行了综述 ,并讨论了克隆植物遗传变异的来源。总体而言 ,克隆植物拥有比早期推测大得多的遗传变异 ,虽然克隆种与其近缘有性繁殖种相比 ,遗传多样性较低 ,但广泛的遗传单态性却很罕见。克隆植物种群的遗传结构有所改变 ,广布基因型很少 ,大多数基因型仅分布于某一种群之内 ,种群间基因型多态性存在广泛的变异。不同克隆植物之间遗传多样性相差很大 ,遗传结构也有巨大差异。说明除生殖模式外 ,其他的一些因素 ,如地理分布范围、生境特点 ,散布方式和种群历史等都对克隆植物遗传多样性有重要影响。     

论克隆植物的遗传多样性

概述了克隆植物的类型与特点,对克隆植物的遗传多样性及其遗传结构的一些 特点进行了综述,并讨论了克隆植物遗传变异的来源。总体而言,克隆植物拥有比早期推测大得多的遗传变异,虽然克隆种与其近缘有性繁殖种相比,遗传多样性较低,但广泛的遗传单态性却很罕见。克隆植物种群的遗传结构有所改变,广布基因型很少,大多数基因型仅分布于某一种群之内,种群间基因型多态性存在广泛的变异。不同克隆植物之间遗传多样性相差很大,遗传结构也有巨大差异。说明除生殖模式外,其他的一些因素,如地理分布范围、生境特点,散布方式和种群历史等都对克隆植物遗传多样性有重要影响。     

Identification of genetic networks

In this report, we propose the use of structural equations as a tool for identifying and modeling genetic networks and genetic algorithms for searching the most likely genetic networks that best fit the data. After genetic networks are identified, it is fundamental to identify those networks influencing cell phenotypes. To accomplish this task we extend the concept of differential expression of the genes, widely used in gene expression data analysis, to genetic networks. We propose a definition for the differential expression of a genetic network and use the generalized T2 statistic to measure the ability of genetic networks to distinguish different phenotypes. However, describing the differential expression of genetic networks is not enough for understanding biological systems because differences in the expression of genetic networks do not directly reflect regulatory strength between gene activities. Therefore, in this report we also introduce the concept of differentially regulated genetic networks, which has the potential to assess changes of gene regulation in response to perturbation in the environment and may provide new insights into the mechanism of diseases and biological processes. We propose five novel statistics to measure the differences in regulation of genetic networks. To illustrate the concepts and methods for reconstruction of genetic networks and identification of association of genetic networks with function, we applied the proposed models and algorithms to three data sets.     

Dissection of the genetic architecture of body weight in chicken reveals the impact of epistasis on domestication traits

In this contribution, we study the genetic mechanisms leading to differences in the observed growth patterns of domesticated White Leghorn chickens and their wild ancestor the red jungle fowl. An epistatic QTL analysis for several body-weight measures from hatch to adulthood confirms earlier findings that polymorphisms at >15 loci contribute to body-weight determination in an F(2) intercross between these populations and that many loci are involved in complex genetic interactions. Here, we use a new genetic model to decompose the genetic effects of this multilocus epistatic genetic network. The results show how the functional modeling of genetic effects provides new insights into how genetic interactions in a large set of loci jointly contribute to phenotypic expression. By exploring the functional effects of QTL alleles, we show that some alleles can display temporal shifts in the expression of genetic effects due to their dependencies on the genetic background. Our results demonstrate that the effects of many genes are dependent on genetic interactions with other loci and how their involvement in the domestication process relies on these interactions.     

Genetic effects of harvest on wild animal populations

Human harvest of animals in the wild occurs in terrestrial and aquatic habitats throughout the world and is often intense. Harvest has the potential to cause three types of genetic change: alteration of population subdivision, loss of genetic variation, and selective genetic changes. To sustain the productivity of harvested populations, it is crucial to incorporate genetic considerations into management. Nevertheless, it is not necessary to disentangle genetic and environmental causes of phenotypic changes to develop management plans for individual species. We recommend recognizing that some genetic change due to harvest is inevitable. Management plans should be developed by applying basic genetic principles combined with molecular genetic monitoring to minimize harmful genetic change.     

The genetic effects of roads: A review of empirical evidence

Roads exert various effects of conservation concern. They cause road mortality of wildlife, change the behaviour of animals and lead to habitat fragmentation. Roads also have genetic effects, as they restrict animal movement and increase the functional isolation of populations. We first formulate theoretical expectations on the genetic effects of roads with respect to a decrease in genetic diversity and an increase in genetic differentiation or distance of populations or individuals. We then review the empirical evidence on the genetic effects of roads based on the available literature. We found that roads often, but not always, decrease the genetic diversity of affected populations due to reduced population size and genetic drift. Whether the reduction in genetic diversity influences the long-term fitness of affected populations is, however, not yet clear. Roads, especially fenced highways, also act as barriers to movement, migration and gene flow. Roads therefore often decrease functional connectivity and increase the genetic differentiation of populations or the genetic distance among individuals. Nevertheless, roads and highways rarely act as complete barriers as shown by genetic studies assessing contemporary migration across roads (by using assignment tests). Some studies also showed that road verges act as dispersal corridors for native and exotic plants and animals. Genetic methods are well suited to retrospectively trace such migration pathways. Most roads and highways have only recently been built. Although only few generations might thus have passed since road construction, our literature survey showed that many studies found negative effects of roads on genetic diversity and genetic differentiation in animal species, especially for larger mammals and amphibians. Roads may thus rapidly cause genetic effects. This result stresses the importance of defragmentation measures such as over- and underpasses or wildlife bridges across roads.     

The mystery of the mystery of common genetic diseases

Common monogenic genetic diseases, ones that have unexpectedly high frequencies in certain populations, have attracted a great number of conflicting evolutionary explanations. This paper will attempt to explain the mystery of why two particularly extensively studied common genetic diseases, Tay Sachs disease and cystic fibrosis, remain evolutionary mysteries despite decades of research. I review the most commonly cited evolutionary processes used to explain common genetic diseases: reproductive compensation, random genetic drift (in the context of founder effect), and especially heterozygote advantage. The latter process has drawn a particularly large amount of attention, having so successfully explained the elevated frequency of sickle cell anemia in malaria-endemic areas. However, the empirical evidence for heterozygote advantage in other common genetic diseases is quite weak. I introduce and illustrate the significance of a hierarchy of genetic disease phenomena found within the genetic disease explanations, which include the phenomena: single mutation variants of a common genetic disease, single genetic diseases, and classes of diseases with related phenotypic effects. I demonstrate that some of the confusion over the explanations of common genetic diseases can be traced back to confusions over which phenomena are being explained. I proceed to briefly evaluate the existing evidence for two common human genetic diseases: Tay Sachs disease and cystic fibrosis. The above considerations will ultimately shed light on why these diseases’ evolutionary explanations remain so deeply unresolved after so such a great volume of research.     

Change of Genetic Architecture in Response to Sex

A traditional view is that sexual reproduction increases the potential for phenotypic evolution by expanding the range of genetic variation upon which natural selection can act. However, when nonadditive genetic effects and genetic disequilibria underlie a genetic system, genetic slippage (a change in the mean genotypic value contrary to that promoted by selection) in response to sex may occur. Additionally, depending on whether natural selection is predominantly stabilizing or disruptive, recombination may either enhance or reduce the level of expressed genetic variance. Thus, the role of sexual reproduction in the dynamics of phenotypic evolution depends heavily upon the nature of natural selection and the genetic system of the study population. In the present study, on a permanent lake Daphnia pulicaria population, sexual reproduction resulted in significant genetic slippage and a significant increase in expressed genetic variance for several traits. These observations provide evidence for substantial genetic disequilibria and nonadditive genetic effects underlying the genetic system of the study population. From these results, the fitness function of the previous clonal selection phase is inferred to be directional and/or stabilizing. The data are also used to infer the effects of natural selection on the mean and the genetic variance of the population.     

RAPD-PCR analysis of genetic diversity in the Manchurian pheasant

The genetic diversity of a local population of the Manchurian pheasant Phasianus colchicus pallasi was studied using RAPD-PCR. Based on the DNA patterns obtained in PCR with five arbitrary decanucleotide primers, we assessed genetic polymorphism of this population, estimated genetic distances between individuals, and constructed an NJ phylogenetic tree, and an UPGMA dendrogram of genetic similarity. The population was shown to exhibit high average genetic polymorphism (P = 79.4%) and genetic distances (D = 0.267). Possible reasons for the high genetic diversity of this local population are discussed.     

Quantifying effects of environmental and geographical factors on patterns of genetic differentiation

Elucidating the factors influencing genetic differentiation is an important task in biology, and the relative contribution from natural selection and genetic drift has long been debated. In this study, we used a regression-based approach to simultaneously estimate the quantitative contributions of environmental adaptation and isolation by distance on genetic variation in Boechera stricta, a wild relative of Arabidopsis. Patterns of discrete and continuous genetic differentiation coexist within this species. For the discrete differentiation between two major genetic groups, environment has larger contribution than geography, and we also identified a significant environment-by-geography interaction effect. Elsewhere in the species range, we found a latitudinal cline of genetic variation reflecting only isolation by distance. To further confirm the effect of environmental selection on genetic divergence, we identified the specific environmental variables predicting local genotypes in allopatric and sympatric regions. Water availability was identified as the possible cause of differential local adaptation in both geographical regions, confirming the role of environmental adaptation in driving and maintaining genetic differentiation between the two major genetic groups. In addition, the environment-by-geography interaction is further confirmed by the finding that water availability is represented by different environmental factors in the allopatric and sympatric regions. In conclusion, this study shows that geographical and environmental factors together created stronger and more discrete genetic differentiation than isolation by distance alone, which only produced a gradual, clinal pattern of genetic variation. These findings emphasize the importance of environmental selection in shaping patterns of species-wide genetic variation in the natural environment.     

Microsatellite markers for standardized genetic management of captive colonies of rhesus macaques (Macaca mulatta)

To preserve genetic variability and minimize genetic subdivision among captive Macaca mulatta at each of the U.S. National Institutes of Health (NIH)-sponsored regional research colonies, the genetic structure of each colony must be characterized. To compare population genetic and demographic parameters across colonies and generations, one standard panel of highly informative genetic markers is required. We assembled a core marker set of four multiplex polymerase chain reaction (PCR) panels comprising 15 autosomal short tandem repeat (STR) loci with high information content selected from existing panels of well-characterized markers that are currently used for parentage assessment and genetic management of rhesus macaques. We then assessed the effectiveness of these loci for providing high probabilities of individual identification and parentage resolution, and for estimating population genetic parameters that are useful for genetic management.     

林木遗传图谱构建的研究进展

高密度分子遗传连锁图谱对分析植物遗传变异、标记目标性状、数量性状定位和分子辅助选择改良性状均具重要价值.由于林木具有世代长、高度杂合、遗传负荷大等遗传特性,使其遗传图谱研究不同于其他物种,其遗传连锁图谱的构建相对复杂.目前,一些林木的遗传连锁图谱已经产生.简要综述了林木遗传图谱研究现状和策略,并对构建高质量林木遗传图谱作了展望.     

Genetic connectivity and diversity in inselberg populations of Acacia woodmaniorum,a rare endemic of the Yilgarn Craton banded iron formations

Historically rare plant species with disjunct population distributions and small population sizes might be expected to show significant genetic structure and low levels of genetic diversity because of the effects of inbreeding and genetic drift. Across the globe, terrestrial inselbergs are habitat for rich, often rare and endemic flora and are valuable systems for investigating evolutionary processes that shape patterns of genetic structure and levels of genetic diversity at the landscape scale. We assessed genetic structure and levels of genetic diversity across the range of the historically rare inselberg endemic Acacia woodmaniorum. Phylogeographic and genetic structure indicates that connectivity is not sufficient to produce a panmictic population across the limited geographic range of the species. However, historical levels of gene flow are sufficient to maintain a high degree of adaptive connectivity across the landscape. Genetic diversity indicates gene flow is sufficient to largely counteract any negative genetic effects of inbreeding and random genetic drift in even the most disjunct or smallest populations. Phylogeographic and genetic structure, a signal of isolation by distance and a lack of evidence of recent genetic bottlenecks suggest long-term stability of contemporary population distributions and population sizes. There is some evidence that genetic connectivity among disjunct outcrops may be facilitated by the occasional long distance dispersal of Acacia polyads carried by insect pollinators moved by prevailing winds.     

山东省长岛县南部四岛藜（Chenopodium album L.）天然种群遗传多样性的ISSR分析

采用ISSR分子标记对分布于山东省长岛县南部的北长山、南长山、大黑山和小黑山4个岛屿上的藜天然种群共81个个体进行了遗传多样性及遗传结构的研究。13个引物共检测到157个可重复的位点。遗传多样性研究结果表明：种内的多态位点比率为66.24％,具有较高的遗传多样性（Shannon（I）指数在物种水平上为0.332 0）;种群间有一定的遗传分化,根据G_st值,种群间的遗传多样性占总群体的9.27％。遗传距离分析表明,XHS种群和NCS种群的遗传一致度最高,与地理距离无相关性。     

Assessment of genetic management at three specific-pathogen-free rhesus macaque (Macaca mulatta) colonies

Genetic management is required to maintain genetic diversity by minimizing inbreeding and genetic subdivision in colonies of animals bred for biomedical research. Polymorphic short tandem repeat (STR) loci are useful for genetic management because they facilitate parentage assignments, genetic characterization of individuals, and estimates of baseline population genetic parameters. Using highly informative STR loci, we estimated gene diversity and F-statistics to determine the level of genetic heterogeneity and genetic structure of three specific-pathogen-free (SPF) rhesus macaque (Macaca mulatta) colonies. Effective population sizes, variance in male reproductive success, and rate of decrease in genetic variability also were estimated for two of the three colonies. We documented the overall success of genetic management in maintaining genetic diversity in captive colonies. We report that even genetically managed SPF colonies, despite maintaining high and stable levels of gene diversity (over 0.75), are prone to genetic subdivision due to different management strategies, founder effects, genetic isolation, and drift. These processes are accelerated by the high variances in male reproductive success and low adult sex ratios that are typical of captive rhesus macaque breeding groups, both of which reduce the effective population sizes of these groups.     

Rate of evolutionary change in cranial morphology of the marsupial genus Monodelphis is constrained by the availability of additive genetic variation

We tested the hypothesis that the rate of marsupial cranial evolution is dependent on the distribution of genetic variation in multivariate space. To do so, we carried out a genetic analysis of cranial morphological variation in laboratory strains of Monodelphis domestica and used estimates of genetic covariation to analyse the morphological diversification of the Monodelphis brevicaudata species group. We found that within‐species genetic variation is concentrated in only a few axes of the morphospace and that this strong genetic covariation influenced the rate of morphological diversification of the brevicaudata group, with between‐species divergence occurring fastest when occurring along the genetic line of least resistance. Accounting for the geometric distribution of genetic variation also increased our ability to detect the selective regimen underlying species diversification, with several instances of selection only being detected when genetic covariances were taken into account. Therefore, this work directly links patterns of genetic covariation among traits to macroevolutionary patterns of morphological divergence. Our findings also suggest that the limited distribution of Monodelphis species in morphospace is the result of a complex interplay between the limited dimensionality of available genetic variation and strong stabilizing selection along two major axes of genetic variation.     

Genetic support groups in the delivery of comprehensive genetic services.

This research sought information about the services provided by genetic support groups, their members' experiences in obtaining genetic and related services, and members' recommendations for improving services. Results from a survey of 43 directors of genetic support groups showed that these organizations not only provide their members with a wide range of informational and supportive services but also address the need for education of both the public and health professionals about genetic disorders. A second survey of 931 members of genetic support groups found that, although they obtained genetic information from a variety of professional and informal sources, many of them experienced barriers to obtaining sufficient genetic information. Respondents called for professionals to improve their interpersonal skills in working with clients and to assist families in obtaining a wider variety of services. On the basis of these findings, a service model and priorities are proposed to bring together genetic specialists, community professionals, and genetic support groups for the delivery of comprehensive services to individuals and families with genetic disorders.