遗传测试和遗传咨询

遗传物质的突变,包括基因突变或染色体畸变,是遗传病发生的根源,也是区别于其他疾病的基本特点。大力开展遗传测试及筛查,及时检出遗传病患者及致病基因携带者,是提高人口素质,促进家庭幸福、社会繁荣、国家昌盛的唯一可行的方法。遗传咨询对于检出遗传病患者及致病基因携带者,并进行有效、可行的婚姻指导、生育指导,以减少或防止遗传病患儿的发生和发病,发挥着相当重要的作用。在产前诊断中涉及疾病胎儿处理的道德选择问题上,遵循四项基本准则：第一,尊重夫妇双方的选择;第二,对个人和家庭不产生伤害;第三,产前诊断的结果可靠;第四,产前诊断和遗传咨询的自愿性。这些准则无疑在世界各国有着共同性。     

Addressing the feasibility of people of African descent finding living African relatives using direct-to-consumer genetic testing

People of African descent use direct-to-consumer genomics services such as 23andMe and AncestryDNA for various family histories and health reasons, including identifying and interacting with the previously unknown living African genetic relatives. In this commentary, I argue that it is reasonable to consider that cousin pairs consisting of an African person and a descendant of an African person enslaved in the Americans during the Transatlantic Slave Trade (i.e., a person of African descent) have genealogical ancestors recent enough to be detected using autosomal DNA testing where the pair has shared ancestors in the range of 20–6 generations ago from the present.     

中国遗传咨询网——我国首个在线遗传咨询与遗传教育网站的开发

随着互联网的普及, 网络用户已习惯从网上获取相关资讯, 包括求医问药。由于我国的临床遗传学体系尚未完全建立, 许多遗传病患者或遗传咨询者无法得到较为专业的知识和咨询服务。为此, 建立了中国首个提供常见遗传病科普和网上遗传咨询服务的公益性网站—中国遗传咨询网(http://www.gcnet.org.cn)。该网站主要介绍遗传病的基本知识以及常见遗传病的一般情况、临床表现、诊断与防治方法、遗传方式与遗传咨询要点等。通过组织国内外50多名遗传咨询医师或医学遗传学专家, 就咨询者关心的问题, 进行一般性咨询答复, 或指导咨询者就诊。在线遗传咨询是网络时代的一种新型的方式。该网站的运行在一定程度上弥补了我国现有遗传咨询工作的不足, 有助于推动我国临床遗传学、遗传教育和人口与健康事业的发展。     

Phylogeny rather than ecology or lifestyle biases the construction of Escherichia coli–Shigella genetic exchange communities

Genetic material can be transmitted not only vertically from parent to offspring, but also laterally (horizontally) from one bacterial lineage to another. Lateral genetic transfer is non-uniform; biases in its nature or frequency construct communities of genetic exchange. These biases have been proposed to arise from phylogenetic relatedness, shared ecology and/or common lifestyle. Here, we test these hypotheses using a graph-based abstraction of inferred genetic-exchange relationships among 27 Escherichia coli and Shigella genomes. We show that although barriers to inter-phylogenetic group lateral transfer are low, E. coli and Shigella are more likely to have exchanged genetic material with close relatives. We find little evidence of bias arising from shared environment or lifestyle. More than one-third of donor–recipient pairs in our analysis show some level of fragmentary gene transfer. Thus, within the E. coli–Shigella clade, intact genes and gene fragments have been disseminated non-uniformly and at appreciable frequency, constructing communities that transgress environmental and lifestyle boundaries.     

基因甘蔗：潜能、现状和前景

从基因中在甘蔗上的应用潜能、甘蔗遗传转化的方法及其成效、启动子及选择标记对基因表达和转化体筛选的效应,基因工程甘蔗的成就等几个方面进行综述评述,并提出了进一步的研究方向。     

Genetic relationships between feral cattle from Chirikof Island, Alaska and other breeds

The origin of cattle on Chirikof Island, off the coast of Alaska, is not well documented. We assessed genetic differentiation of cattle isolated on Chirikof Island from several breeds commonly used for commercial production in North America including breeds popularly believed to have contributed to the Chirikof Island population. A set of 34 microsatellite loci was used to genotype Angus, Charolais, Hereford, Highland, Limousin, Red Angus, Salers, Shorthorn, Simmental, Tarentaise and Texas Longhorn cattle sampled from North America and the Chirikof Island population. Resulting F(ST) statistics for these loci ranged from 0.06 to 0.22 and on average, 14% of total genetic variation was between breeds. Whether population structure was modelled as a bifurcating tree or genetic network, Chirikof Island cattle appeared to be unique and strongly differentiated relative to the other breeds that were sampled. Bayesian clustering for multiple-locus assignment to genetic groups indicated low levels of admixture in the Chirikof Island population. Thus, the Chirikof Island population may be a novel genetic resource of some importance for conservation and industry.     

河北省大豆地方品种遗传基础

以50份河北省大豆地方品种为材料,通过两年对12个农艺性状鉴定和30个SSR位点的分析,结果表明,地方品种农艺性状平均多样性指数为0．83,数量性状平均变异系数为20．15％,30个SSR位点平均等位变异数5．03,平均多样性指数为0．61,参试材料遗传距离平均0．869。利用Bayesian模型将参试材料分为4组。分析结果表明,河北省地方品种的遗传多样性与地理来源或不同熟期类型间没有显著相关。     

小毛莨居群的遗传分化及其与空间隔离的相关性

采用聚丙烯酰胺凝胶电泳技术,对分布于华中地区的11个小毛莨（Ranunculus ternatus）居群的遗传分化进行了检测。对8个酶系统17个酶位点上的分析结果表明,该种各居群的各项遗传多样性指标处于一个相对较低的水平：多态位点比率（P）为0－53.0％,平均每位点等位基因数（A）为1－1.647,平均预期杂合度（He）和观察杂合度（Ho）分别为0－0.108和0－0.102。居群间遗传一致度甚高（I＝0.9754-0.9991）。根据Nei 's传距离所作出的聚灰分析表明,豫南信阳地区3个居群与湖北省武汉地区8个居群之间关系较远。而在武汉地区,长江以北的居群及长江以南的部分居群分别相聚在一起,用GPS定位方法得到居群间空间距离并据此聚类,该种的遗传分化与地理因素的相关性,并推测出长江的隔离作用加强了两岸居群间的遗传分化,同时发现一个生于独特生境的居群在表型和遗传结构上都已与其他邻近居群有了很大分异,由于该居群在所检测的酶位点上均无特有等位基因出现,作者认为不宜将其作为新种或新变种处理。     

忍冬属植物的遗传多样性及其种间关系研究

应用RAPD标记技术对甘肃省境内的23种忍冬属(Lonicera Linn．)植物的遗传多样性及其种间关系进行了探讨。从34个随机引物中共选出9个多态性和重复性较好且谱带清晰的引物,这9个引物扩增出的DNA片段大多在300～3000bp之间,所形成的多态性位点数差距较大。POPGENE 1．31软件分析结果表明：甘肃省忍冬属植物具有较为丰富的遗传多样性,其多态性比率为71．93％,Shannon多样性指数与Nei指数分别为0．3230和0．2086。Nei‘s遗传距离和UPGMA分析结果显示,23种忍冬明显地聚为2大类,其下又有较多分支,即隶属于同一亚组或相近亚组的不同种基本归为一类,其种间关系与传统的形态学分类结果基本一致。但也有个别种的归属及种间关系稍有变化,如形态学上差异较大的毛药忍冬和毛花忍冬在本研究中聚在一起。这可能与不同的分类水平有关。     

Genetic population structure of two African-Ecuadorian communities of Esmeraldas

The genetic structure of two African-Ecuadorian communities, Rio Cayapas and Viche (Esmeraldas province, northwest Ecuador), was studied on the basis of ACP1, ADA, AK1, CA2, ESD, GLO1, G6PD, PGD, and PGM1 subtypes and thermostability, PGM2, HBβ, F13A, F13B, ORM1, AHSG, C6, C7, and APOC2 gene frequency, and migration data on 255 individuals. The fixation index of Wright (F_ST), correspondence, and genetic distance analysis were applied to compare the genetic relationships between these communities and other American populations of African ancestry. F_ST values from the migration data and surname origins suggest that Rio Cayapas is genetically more isolated and shows less mobility and admixture than does Viche. The genetic admixture estimates indicate a large contribution of African genes to the gene pool of both communities (74.3% to 58.4%), whereas the proportion of the Amerindian component differs significantly (14.5% in Rio Cayapas to 27.6% in Viche). Am J Phys Anthropol 109:159–174, 1999.© 1999 Wiley-Liss, Inc.     

Does natural selection alter genetic architecture? An evaluation of quantitative genetic variation among populations of Allonemobiussocius and A. fasciatus

To make long-term predictions using present quantitative genetic theory it is necessary to assume that the genetic variance–covariance matrix ( G ) remains constant or at least changes by a constant fraction. In this paper we examine the stability of the genetic architecture of two traits known to be subject to natural selection; femur length and ovipositor length in two species of the cricket Allonemobius. Previous studies have shown that in A. fasciatus and A. socius natural selection favours an increased body size southwards but a decreased ovipositor length. Such countergradient selection should tend to favour a change in G . In the total sample of eight populations of A. socius and one of A. fasciatus we show that there is significant variation in all genetic covariance components, i.e. V_A for body size, V_A for ovipositor length, and Cov_A. This variation results entirely from an increase in the covariances of A. fasciatus. However, although larger, these components are approximately proportionally increased, thereby leading to no statistically significant change in the genetic correlation. A proportional increase in the covariance components is consistent with changes resulting from genetic drift. On the other hand, the genetic covariance components are significantly correlated with the length of the growing season suggesting that the change in the genetic architecture is the result of selection and drift.     

Development of a Chinese-Indian hybrid (Chindian) rhesus macaque colony at the California National Primate Research Center by introgression

Background  Fullbred Chinese and Indian rhesus macaques represent genetically distinct populations. The California National Primate Research Center introduced Chinese founders into its Indian-derived rhesus colony in response to the 1978 Indian embargo on exportation of animals for research and the concern that loss of genetic variation in the closed colony would hamper research efforts. The resulting hybrid rhesus now number well over a thousand animals and represent a growing proportion of the animals in the colony.
Methods  We characterized the population genetic structure of the hybrid colony and compared it with that of their pure Indian and Chinese progenitors.
Results  The hybrid population contains higher genetic diversity and linkage disequilibrium than their full Indian progenitors and represents a resource with unique research applications.
Conclusions  The genetic diversity of the hybrids indicates that the strategy to introduce novel genes into the colony by hybridizing Chinese founders and their hybrid offspring with Indian-derived animals was successful.     

A definition of unknown parent groups based on bull usage patterns across herds

In genetic evaluations, the definition of unknown parent groups (UPG) is usually based on time periods, selection path and flows of foreign founders. The definition of UPG may be more complex for populations presenting genetic heterogeneity due to both, large national expansion and coexistence of artificial insemination (AI) and natural service (NS). A UPG definition method accounting for beef bull flows was proposed and applied to the French Charolais cattle population. It assumed that, at a given time period, unknown parents belonged to the same UPG when their progeny were bred in herds that used bulls with similar origins (birth region and reproduction way). Thus, the birth period, region and AI rate of a herd were pointed out to be the three criteria reflecting genetic disparities at the national level in a beef cattle population. To deal with regional genetic disparities, 14 regions were identified using a factorial approach combining principal component analysis and Ward clustering. The selection nucleus of the French cattle population was dispersed over three main breeding areas. Flows of NS bulls were mainly carried out within each breeding area. On the contrary, the use and the selection of AI bulls were based on a national pool of candidates. Within a time period, herds of different regions were clustered together when they used bulls coming from the same origin and with an estimated difference of genetic level lower than 20% of genetic standard deviation (σg) for calf muscle and skeleton scores (SS) at weaning. This led to the definition of 16 UPG of sires, which were validated as robust and relevant in a sire model, meaning numerically stable and corresponding to distinct genetic subpopulations. The UPG genetic levels were estimated for muscle and SS under sire and animal models. Whatever the trait, differences between bull UPG estimates within a time period could reach 0.5 σg across regions. For a given time period, bull UPG estimates for muscle and SS were generally larger by 0.30 to 0.75 σg than those of cows. Including genetic groups in the evaluation model increased the estimated genetic trends by 20% to 30%. It also provoked re-ranking in favor of bulls and cows without pedigree.     

Strategies for genetic conservation of trees in the Peruvian Amazon

Forestry practices and high rates of land clearance for agriculture are causing genetic erosion of valuable tree species in the Peruvian Amazon, thereby endangering the economic sustainability of rural communities and limiting Peru's opportunities for the development of new timber and non-timber forest products. The potential utility and limitations of six low-input interventions to help forestall further genetic erosion in the region are discussed, with a focus on local community involvement. Improved agroforestry systems may help reduce deforestation by increasing farm productivity, although methods to increase the currently low adoption rate of these technologies need to be developed. Use of strategic tree domestication techniques can also improve farm productivity and prevent inadvertent genetic drift and inbreeding associated with traditional domestication practices, although to have a major impact, current programs need to be extended across the region. Woodlot forestry could supplant selective extraction of timber and offers an attractive opportunity for poverty alleviation if appropriate credit and land tenure policies can be developed. However, it may also result in increased deforestation if activities on public land cannot be controlled. The implementation of improved seed collection systems and simple seed transfer guidelines would help to reduce the collection of seed of poor quality and low genetic diversity, and avoid maladapted plantings, although such programs are difficult to monitor and seed costs may increase. Strategic identification and design of in situ conservation areas would help to ensure the viability of conserved populations, but requires the forfeiture of significant revenue from timber concessions.     

iPS细胞的遗传安全性

自2006年Takahashi和Yamanaka首次成功地从小鼠成纤维细胞诱导得到诱导多能性干细胞(Induced pluripotent stem cells,iPS细胞)以来,iPS细胞由于其潜在的广阔应用前景而迅速成为干细胞研究领域的新热点;与此同时,iPS细胞的遗传安全性也越来越多地受到人们的关注。文章将对iPS细胞遗传安全性的研究进展进行综述,分析造成iPS细胞遗传不稳定的可能原因,希望可以促进对iPS细胞诱导条件的优化,获得遗传上较为安全的iPS细胞。     

Genetic variation analysis within and among Chinese indigenous swine populations using microsatellite markers

The genetic structure of five types of Taihu pig (Erhualian, Middle Meishan, Small Meishan, Mizhu and Shawutou), Jiangquhai and Dongchuan pigs in China were investigated, by means of 27 microsatellite markers proposed by the Food and Agriculture Organisation, International Society for Animal Genetics (FAO-ISAG). The Hardy-Weinberg equilibrium test indicated that genetic drift had occurred in these populations, which may be caused by founder effects, intensive selection and close breeding. Genetic heterozygosity and the effective number of alleles per population were calculated, and showed that the genetic variability of the Jiangquhai pig was the largest, while the Small Meishan had the lowest. Genetic differentiation was within each population as shown by the fixation index (F(ST)=0.18). Both a neighbour-joining (NJ) tree constructed from Nei's standard genetic distance and principal component analysis based on allele frequencies can distinguish types of Taihu pig from the other two breeds. Among Taihu pig populations, Erhualian and Mizhu grouped into one branch, while Middle Meishan, Small Meishan and Shawutou clustered as another branch. By including previously published data on European pigs reported, we confirmed that Chinese indigenous pigs and European pigs have diverged into two distinct groups.     

Natural variants suppress mutations in hundreds of essential genes

The consequence of a mutation can be influenced by the context in which it operates. For example, loss of gene function may be tolerated in one genetic background, and lethal in another. The extent to which mutant phenotypes are malleable, the architecture of modifiers and the identities of causal genes remain largely unknown. Here, we measure the fitness effects of ~ 1,100 temperature‐sensitive alleles of yeast essential genes in the context of variation from ten different natural genetic backgrounds and map the modifiers for 19 combinations. Altogether, fitness defects for 149 of the 580 tested genes (26%) could be suppressed by genetic variation in at least one yeast strain. Suppression was generally driven by gain‐of‐function of a single, strong modifier gene, and involved both genes encoding complex or pathway partners suppressing specific temperature‐sensitive alleles, as well as general modifiers altering the effect of many alleles. The emerging frequency of suppression and range of possible mechanisms suggest that a substantial fraction of monogenic diseases could be managed by modulating other gene products.     

用遗传标记监测不同环境和经营措施下的加勒比松森林群体遗传动态

对古巴加勒比松的6个群体（包括天然林、采伐林、母树林和种子园）进行了同功酶分析,根据5个酶系统8个位点的同功酶数据,对各群 交配系统以及群体遗传变异和结构进行了分析,天然林、种子园和母树林的多位点异交率和绝大多数单位点异交率都和完全异交无显著差异,过渡采伐的松树岛群体多位点异交率显著小于完全异交,而只有一半单位点异交率显著小于完全异交,而且该群体单位点平均异交率和多位点异交率均低于其它3个群体的估计值。采伐群体中同功酶变异和基因多样性与天然林群体JAG的相似,但低于其它群体,其近交系数较大,但小于天然林MAN和中国栽培群体的近交系数。中国引种栽培群体无论是同功酶变异还是基因多样性都显著高于古巴群体,与所有古巴群体的遗传距离都显著大于古巴群体之间的遗传距离。结果表明过度采伐导致群体自交程度增加,营建种子园可有效减少近交。自然分布区以外的引种栽培群体遗传变化量大,无论遗传变异和基因多样性都比参试其它群体大。     

基于SCoT分子标记的裸果木遗传多样性分析

为了揭示裸果木的遗传多样性和遗传结构,采用SCoT分子标记对新疆7个裸果木自然种群201个植株进行分析。结果表明12条引物共扩增出145个位点,在物种和种群水平上裸果木多态位点百分率分别为97.24%和76.45%,Nei's遗传多样性指数分别为0.263 8和0.213 7,Shannon's信息多样性指数分别为0.408 1和0.331 6,说明裸果木具有较高的遗传多样性,且物种水平遗传多样性略高于种群水平;遗传分化系数为0.183 9,说明其遗传变异主要来自种群内,种群间存在一定程度的分化;Mantel检验结果表明裸果木种群地理距离与遗传距离不存在显著相关性;运用主坐标分析（PCoA）和STRUCTURE分析对裸果木个体间亲缘关系聚类分析的结果存在一定差异,但总体上结果是一致的。裸果木的遗传多样性和遗传结构可能与进化历史、繁育系统、地理隔离和人为干扰有关。