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.     

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。     

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。     

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.     

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.