我国高校遗传学教材的出版与使用现状的调查

利用国家图书馆“文津”搜索系统发现, 我国自恢复高考以来, 累计出版遗传学教材895部, 其中理论教材588部(65.7%)、实验教材122部(13.6%)、教学参考资料185部(20.7%)。这些教材中, 医学遗传学最多, 普通遗传学其次, 动植物微生物遗传学较少。对教材的名称、第一编(著)者和出版机构的分析发现, 名称为“医学遗传学”的教材有91部, 左伋教授编写了9部教材, 是编写教材最多的“第一编(著)者”, 科学出版社共出版了179部(占20%)教材, 是遗传学教材出版的主力军。利用问卷调查发现, 戴灼华等主编的《遗传学》(第二版)是目前使用最广泛的理论教材, 实验教材则多用自编讲义或教材。文章也对教材中存在的问题, 如更新周期长、配套落后、同名严重、遗传学故事写得太少、特色插图凤毛麟角、印刷页字数过满等进行了剖析, 并提出了解决途径。     

Evolution and University-level Anthropology Textbooks: The “Missing Link”?

Although studies analyzing the content of evolution curriculum usually focus on courses within the context of a biological sciences department or program, research must also address students and courses outside of the biological sciences. For example, using data solely from biological courses will not fully represent the scope of coverage of evolution in university education, as other fields, like anthropology, also utilize evolutionary principles. We analyzed the content of 31 university-level anthropology textbooks for the following: (1) presence of a definition of evolution in various sections of the textbooks, (2) accuracy and consistency of the definitions provided in the textbook sections, and (3) differences between textbooks for cultural and physical anthropology. Results of this study suggest that anthropology textbooks do not necessarily (1) provide a single definition of evolution or (2) provide an accurate, “baseline” definition of evolution when present. Additionally, substantive differences were observed between definitions provided in different sections within a single textbook, as well as between textbooks written for cultural anthropology and physical anthropology/archaeology courses. Given the inclusion of anthropology courses in general education curriculum at the university-level, we conclude that this situation may further exacerbate the misunderstanding of the basic tenets of evolution that university students have been repeatedly shown to demonstrate. We stress the role of the instructor in choosing textbooks that provide accurate information for students, as well as the responsibility they hold in providing a concise, accurate definition of evolution in social sciences courses.     

The behaviors of some heritability estimators in the complete absence of genetic factors.

Heritability is an important concept in quantitative genetics and is widely used in human genetics. A high or even a moderate value of heritability estimate is usually taken as evidence for a genetic component for a quantitative trait. In this paper, the behaviors of some correlation-based heritability estimators are reexamined under the assumption of complete absence of any genetic factors. It turns out that when monozygotic (MZ) twins (or full sibs) are environmentally more similar than dizygotic twins (or half sibs), or when there is placement bias in MZ twins reared apart, those correlation-based heritability estimates can lead to nonnegligible or even high heritability values, even when genetic factors are completely absent. These alarming results suggest that extreme care should be exercised when using these heritability estimators.     

Group differences in the heritability of items and test scores

It is important to understand potential sources of group differences in the heritability of intelligence test scores. On the basis of a basic item response model we argue that heritabilities which are based on dichotomous item scores normally do not generalize from one sample to the next. If groups differ in mean ability, the functioning of items at different ability levels may result in group differences in the heritability of items, even when these items function equivalently across groups and the heritability of the underlying ability is equal across groups. We illustrate this graphically, by computer simulation, and by focusing on several problems associated with a recent study by Rushton et al. who argued that the heritability estimates of items of Raven''s Progressive Matrices test in North-American twin samples generalized to other population groups, and hence that the population group differences on this test of general mental ability (or intelligence) had a substantial genetic component. Our results show that item heritabilities are strongly dependent on the group on which the heritabilities were based. Rushton et al.''s results were artefactual and do not speak to the nature of population group differences in intelligence test performance.     

Rare copy number deletions predict individual variation in intelligence

Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible for this heritability, but identified effects capture little variance and have proven difficult to replicate. The present study, motivated an interest in “mutation load” emerging from evolutionary perspectives, examined the importance of the number of rare (or infrequent) copy number variations (CNVs), and the total number of base pairs included in such deletions, for psychometric intelligence. Genetic data was collected using the Illumina 1MDuoBeadChip Array from a sample of 202 adult individuals with alcohol dependence, and a subset of these (N = 77) had been administered the Wechsler Abbreviated Scale of Intelligence (WASI). After removing CNV outliers, the impact of rare genetic deletions on psychometric intelligence was investigated in 74 individuals. The total length of the rare deletions significantly and negatively predicted intelligence (r = −.30, p = .01). As prior studies have indicated greater heritability in individuals with relatively higher parental socioeconomic status (SES), we also examined the impact of ethnicity (Anglo/White vs. Other), as a proxy measure of SES; these groups did not differ on any genetic variable. This categorical variable significantly moderated the effect of length of deletions on intelligence, with larger effects being noted in the Anglo/White group. Overall, these results suggest that rare deletions (between 5% and 1% population frequency or less) adversely affect intellectual functioning, and that pleotropic effects might partly account for the association of intelligence with health and mental health status. Significant limitations of this research, including issues of generalizability and CNV measurement, are discussed.     

Contribution of an additive locus to genetic variance when inheritance is multi-factorial with implications on interpretation of GWAS

Although the effects of linkage disequilibrium (LD) on partition of genetic variance have received attention in quantitative genetics, there has been little discussion on how this phenomenon affects attribution of variance to a given locus. This paper reinforces the point that standard metrics used for assessing the contribution of a locus to variance can be misleading when there is linkage LD and that factors such as distribution of effects and of allelic frequencies over loci, or existence of frequency-dependent effects, play a role as well. An apparently new metric is proposed for measuring how much of the variability is contributed by a locus when LD exists. Effects of intervening factors, such as type and extent of LD, number of loci, distribution of effects, and of allelic frequencies over loci, as well as a model for generating frequency-dependent effects, are illustrated via hypothetical simulation scenarios. Implications on the interpretation of genome-wide association studies (GWAS), as typically carried out in human genetics, where single marker regression and the assumption of a sole quantitative trait locus (QTL) are common, are discussed. It is concluded that the standard attributions to variance contributed by a single QTL from a GWAS analysis may be misleading, conceptually and statistically, when a trait is complex and affected by sets of many genes in linkage disequilibrium. Yet another factor to consider in the “missing heritability” saga?.     

华中农业大学《微生物学》系列教材的特点及发展

优秀教材是高水平课程教学的前提与基础.在此之前针对我国农业微生物学系列教材建设,国内外尚未有学者进行系统的总结和研究.本文对华中农业大学出版的《微生物学》系列教材的建设和发展状况进行了调查研究和分析比较,发掘和提炼老一辈微生物学家的教材建设思想,汲取其教学思想和教学改革的精华,以期为高等院校的农业微生物学教育和科研提供...     

Socioeconomic status (SES) and children's intelligence (IQ): in a UK-representative sample SES moderates the environmental, not genetic, effect on IQ

Background

The environment can moderate the effect of genes - a phenomenon called gene-environment (GxE) interaction. Several studies have found that socioeconomic status (SES) modifies the heritability of children''s intelligence. Among low-SES families, genetic factors have been reported to explain less of the variance in intelligence; the reverse is found for high-SES families. The evidence however is inconsistent. Other studies have reported an effect in the opposite direction (higher heritability in lower SES), or no moderation of the genetic effect on intelligence.

Methods

Using 8716 twin pairs from the Twins Early Development Study (TEDS), we attempted to replicate the reported moderating effect of SES on children''s intelligence at ages 2, 3, 4, 7, 9, 10, 12 and 14: i.e., lower heritability in lower-SES families. We used a twin model that allowed for a main effect of SES on intelligence, as well as a moderating effect of SES on the genetic and environmental components of intelligence.

Results

We found greater variance in intelligence in low-SES families, but minimal evidence of GxE interaction across the eight ages. A power calculation indicated that a sample size of about 5000 twin pairs is required to detect moderation of the genetic component of intelligence as small as 0.25, with about 80% power - a difference of 11% to 53% in heritability, in low- (−2 standard deviations, SD) and high-SES (+2 SD) families. With samples at each age of about this size, the present study found no moderation of the genetic effect on intelligence. However, we found the greater variance in low-SES families is due to moderation of the environmental effect – an environment-environment interaction.

Conclusions

In a UK-representative sample, the genetic effect on intelligence is similar in low- and high-SES families. Children''s shared experiences appear to explain the greater variation in intelligence in lower SES.     

Marker-Based Estimation of Heritability in Immortal Populations

Heritability is a central parameter in quantitative genetics, from both an evolutionary and a breeding perspective. For plant traits heritability is traditionally estimated by comparing within- and between-genotype variability. This approach estimates broad-sense heritability and does not account for different genetic relatedness. With the availability of high-density markers there is growing interest in marker-based estimates of narrow-sense heritability, using mixed models in which genetic relatedness is estimated from genetic markers. Such estimates have received much attention in human genetics but are rarely reported for plant traits. A major obstacle is that current methodology and software assume a single phenotypic value per genotype, hence requiring genotypic means. An alternative that we propose here is to use mixed models at the individual plant or plot level. Using statistical arguments, simulations, and real data we investigate the feasibility of both approaches and how these affect genomic prediction with the best linear unbiased predictor and genome-wide association studies. Heritability estimates obtained from genotypic means had very large standard errors and were sometimes biologically unrealistic. Mixed models at the individual plant or plot level produced more realistic estimates, and for simulated traits standard errors were up to 13 times smaller. Genomic prediction was also improved by using these mixed models, with up to a 49% increase in accuracy. For genome-wide association studies on simulated traits, the use of individual plant data gave almost no increase in power. The new methodology is applicable to any complex trait where multiple replicates of individual genotypes can be scored. This includes important agronomic crops, as well as bacteria and fungi.     

Some history of heredity-vs-environment, genetic inferiority at Harvard(?), and The (incredible) Bell Curve

This article discusses some historical and intellectual roots of American behaviorism in psychology and its anti-heredity, environmentalist bias, as well as the early ‘justification’ for pure line theory in genetics and some interrelations between the two fields. Next, I discuss the heritability concept, its promotion, its critique and the importance of distinguishing it from, rather than confusing or conflating it with, the heredity concept. Then, briefly I consider some of the history and problems associated with the intelligence concept, as well as the capital importance of biological controls in studies of human heredity. And finally, I document the incredibility of The Bell Curve and the appalling inadequacy of its reception. This revised version was published online in August 2006 with corrections to the Cover Date.     

Inference of genetic architecture from chromosome partitioning analyses is sensitive to genome variation,sample size,heritability and effect size distribution

Genomewide association studies have contributed immensely to our understanding of the genetic basis of complex traits. One major conclusion arising from these studies is that most traits are controlled by many loci of small effect, confirming the infinitesimal model of quantitative genetics. A popular approach to test for polygenic architecture involves so‐called “chromosome partitioning” where phenotypic variance explained by each chromosome is regressed on the size of the chromosome. First developed for humans, this has now been repeatedly used in other species, but there has been no evaluation of the suitability of this method in species that can differ in their genome characteristics such as number and size of chromosomes. Nor has the influence of sample size, heritability of the trait, effect size distribution of loci controlling the trait or the physical distribution of the causal loci in the genome been examined. Using simulated data, we show that these characteristics have major influence on the inferences of the genetic architecture of traits we can infer using chromosome partitioning analyses. In particular, small variation in chromosome size, small sample size, low heritability, a skewed effect size distribution and clustering of loci can lead to a loss of power and consequently altered inference from chromosome partitioning analyses. Future studies employing this approach need to consider and derive an appropriate null model for their study system, taking these parameters into consideration. Our simulation results can provide some guidelines on these matters, but further studies examining a broader parameter space are needed.     

Power and Effective Study Size in Heritability Studies

Correlation between study units in quantitative genetics studies often makes it difficult to compare important inferential aspects of studies. Describing the relatedness between study units is critical to capture features of pedigree studies involving heritability, including power and precision of heritability estimates. Blangero et al. (Adv Genet 81:1–31, 2012) showed that in pedigree studies the power to detect heritability is a function of the true heritability and the eigenvalues of the kinship matrix. We extend this to a more general setting which allows statements about expected precision of heritability estimates. Using two different Taylor series approximations, we summarize the relatedness in a study design by one or two parameters. These relatedness summary parameters (RSPs) are functions of the eigenvalues or log-eigenvalues of the kinship matrix. Using the RSPs based on the log-eigenvalues, we accurately approximate the expectation of the likelihood ratio test and expected confidence interval widths. We define an effective sample size of a target study as one which has the equivalent power and precision to a reference design. Using unrelated sibpairs as the reference design provides very accurate assessments of power. RSPs and effective sample sizes provide new tools for comparing studies and communicating information about relatedness in heritability studies.     

Evidence for higher heritability of somatotype compared to body mass index in female twins

The influence of genetics on human physique and obesity has been addressed by the literature. Evidence for heritability of anthropometric characteristics has been previously described, mainly for the body mass index (BMI). However, few studies have investigated the influence of genetics on the Heath-Carter somatotype. The aim of the present study was to assess the heritability of BMI and somatotype (endomorphy, mesomorphy, and ectomorphy) in a group of female monozygotic and dizygotic twins from childhood to early adulthood. A total of 28 females aged from 7 to 19 years old were studied. The group included 5 monozygotic and 9 dizygotic pairs of twins. The heritability was assessed by the twin method (h(2)). The anthropometric measures and somatotype were assessed using standard validated procedures. Significant differences between monozygotic and dizygotic pairs of twins were found for height, endomorphy, ectomorphy, and mesomorphy, and the heritability for these measures was high (h(2) between 0.88 and 0.97). No significant differences were found between monozygotic and dizygotic twins for weight, and the BMI and the heritability indexes were lower for these measures (respectively 0.42 and 0.52). The results of the present study have indicated that the somatotype may be more sensible to genetic influences than the BMI in females.     

Three puzzles and eight gaps: what heritability studies and critical commentaries have not paid enough attention to

This article examines eight “gaps” in order to clarify why the quantitative genetics methods of partitioning variation of a trait into heritability and other components has very limited power to show anything clear and useful about genetic and environmental influences, especially for human behaviors and other traits. The first two gaps should be kept open; the others should be bridged or the difficulty of doing so should be acknowledged: 1. Key terms have multiple meanings that are distinct; 2. Statistical patterns are distinct from measurable underlying factors; 3. Translation from statistical analyses to hypotheses about measurable factors is difficult; 4. Predictions based on extrapolations from existing patterns of variation may not match outcomes; 5. The partitioning of variation in human studies does not reliably estimate the intended quantities; 6. Translation from statistical analyses to hypotheses about the measurable factors is even more difficult in light of the possible heterogeneity of underlying genetic or environmental factors; 7. Many steps lie between the analysis of observed traits and interventions based on well-founded claims about the causal influence of genetic or environmental factors; 8. Explanation of variation within groups does not translate to explanation of differences among groups. At the start, I engage readers’ attention with three puzzles that have not been resolved by past debates. The puzzles concern generational increases in IQ test scores, the possibility of underlying heterogeneity, and the translation of methods from selective breeding into human genetics. After discussing the gaps, I present each puzzle in a new light and point to several new puzzles that invite attention from analysts of variation in quantitative genetics and in social science more generally. The article’s critical perspectives on agricultural, laboratory, and human heritability studies are intended to elicit further contributions from readers across the fields of history, philosophy, sociology, and politics of biology and in the sciences.     

Genetic foundations of human intelligence

Individual differences in intelligence (cognitive abilities) are a prominent aspect of human psychology, and play a substantial role in influencing important life outcomes. Their phenotypic structure—as described by the science of psychometrics—is well understood and well replicated. Approximately half of the variance in a broad range of cognitive abilities is accounted by a general cognitive factor (g), small proportions of cognitive variance are caused by separable broad domains of mental function, and the substantial remainder is caused by variance that is unique to highly specific cognitive skills. The heritability of g is substantial. It increases from a low value in early childhood of about 30%, to well over 50% in adulthood, which continues into old age. Despite this, there is still almost no replicated evidence concerning the individual genes, which have variants that contribute to intelligence differences. Here, we describe the human intelligence phenotype, summarise the evidence for its heritability, provide an overview of and comment on molecular genetic studies, and comment on future progress in the field.     

The Heritability of Difference Scores when Environments are Correlated

The statistical analysis of difference scores (contrasts) is a fundamental problem in all learning, feeding, and training experiments and tests, and in longitudinal studies of growth and development. Outgoing from the analogy between the mathematical models of classical psychological test theory and quantitative genetics, as well as between the parameters reliability and heritability of these models, the present paper derives the formulas of the heritability of difference scores in general cases where it is not assumed that environmental deviations on distinct tests and measurements are uncorrelated. Contrary to the assertion, made by FELDMAN and LEWONTIN , heritabilities in the broad sense can be used as ideal weighting factors in long-range personnel index selection. Longitudinal studies of twins and the cotwin method are powerful experimental designs to estimate heritabilities of differences.     

The canid genome: behavioral geneticists' best friend?

We review a range of studies on the genetic contribution to behavior in canid species. We begin by identifying factors that make canids a promising model in behavioral genetics and proceed to review research over the last decade that has used canids to identify genetic contributions to behavior. We first review studies that have selectively bred dogs to identify genetic contributions to behavior and then review studies that estimate heritability from populations of non‐laboratory bred dogs. We subsequently review studies that used molecular genetics to identify gene–behavior associations and note associations that have been uncovered. We then note challenges in canid behavioral genetics research that require further consideration. We finish by suggesting alternative phenotyping methods and identify areas in which canids may have as yet unexploited advantages, such as in gene–environment interaction studies where genetic factors are found to moderate the effects of environmental variables.     

Heritability of brain size and surface features in rhesus macaques (Macaca mulatta)

The extent of heritability for overall brain size and regional cortical surface features such as sulcus lengths is important for demonstrating a genetic component to the observed phenotypic differences among individuals and for evaluating the potential for evolutionary change in response to selection. Although the genetics of brain size has been extensively considered, the detailed morphology of the cortical surface has not previously been subjected to genetic analysis. We estimated the heritability of brain size and cortical sulcus lengths using 438 endocranial casts taken from skeletons of rhesus macaques (Macaca mulatta) from the Cayo Santiago population. Estimates were obtained both by mother-offspring regression and symmetric-differences-squared (SDS) methods. Brain size, measured as cranial capacity, was highly and significantly heritable in this population, confirming results of previous studies with laboratory mice. Overall, cortical sulcus lengths were also heritable, with 35% of the sulci significantly heritable at the 5% level in the mother-offspring analysis. The average mother-offspring heritability estimate, 0.31, was the same as the average heritability obtained previously from a series of 56 cranial metric characters. The SDS analyses generally corresponded to the findings based on mother-offspring regressions, although the significance test appeared more conservative. Both gross and detailed morphology of the brain are heritable.     

A genetic perspective on coeliac disease

Coeliac disease is an inflammatory disorder of the small intestine with an autoimmune component and strong heritability. Genetic studies have confirmed strong association to HLA and identified 39 nonHLA risk genes, mostly immune-related. Over 50% of the disease-associated single nucleotide polymorphisms are correlated with gene expression. Most of the coeliac disease-associated regions are shared with other immune-related diseases, as well as with metabolic, haematological or neurological traits, or cancer. We review recent progress in the genetics of coeliac disease and describe the pathways these genes are in, the functional consequences of the associated markers on gene expression and the genes shared between coeliac disease and other traits.     

国内高校遗传学教材发展研究

教材建设是课程建设的重要环节。遗传学教学在中国的发展道路是崎岖曲折的, 与生命科学其他学科相比有其独特之处。通过对国内遗传学教材从解放前到21世纪的发展历程的研究, 希望能为组编出更符合大学本科生教学特点, 贴近国内外遗传学发展前沿的教材, 培养具有遗传学基本知识和创新能力的应用和研究型人才提供有价值的参考。