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。     

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。     

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。     

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 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.     

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。     

遗传标记及其在家禽遗传育种中应用的研究进展

概述了现代分子生物学所发展的各类遗传标记的发展和现状及其在家禽遗传育种中的应用,同时也探讨了数量与质量性状基因定位在动物遗传育种中的应用。     

Genetic variability in the Skyros pony and its relationship with other Greek and foreign horse breeds

In Greece, seven native horse breeds have been identified so far. Among these, the Skyros pony is outstanding through having a distinct phenotype. In the present study, the aim was to assess genetic diversity in this breed, by using different types of genetic loci and available genealogical information. Its relationships with the other Greek, as well as foreign, domestic breeds were also investigated. Through microsatellite and pedigree analysis it appeared that the Skyros presented a similar level of genetic diversity to the other European breeds. Nevertheless, comparisons between DNA-based and pedigree-based results revealed that a loss of genetic diversity had probably already occurred before the beginning of breed registration. Tests indicated the possible existence of a recent bottleneck in two of the three main herds of Skyros pony. Nonetheless, relatively high levels of heterozygosity and Polymorphism Information Content indicated sufficient residual genetic variability, probably useful in planning future strategies for breed conservation. Three other Greek breeds were also analyzed. A comparison of these with domestic breeds elsewhere, revealed the closest relationships to be with the Middle Eastern types, whereas the Skyros itself remained isolated, without any close relationship, whatsoever.     

近缘物种的遗传多样性及其亲缘关系的取样策略研究

取样策略的问题目前大多停留于对单一物种的种质资源研究.然而,对野生近缘植物取样策略的研究,不仅有利于准确快捷地阐明物种间的系统发育关系,而且对于了解遗传多样性分布状况,制定野外考察、材料收集取样及保护策略均有重要的理论指导意义.以巴山松及其近缘种为例,利用cpSSR(叶绿体微卫星)和AFLP2种分子标记对其取样策略和统计方法进行分析,揭示居群取样个体数和基因位点数与遗传多样性的关系以及基因(引物)和系统树构建方法对亲缘关系确定的影响.研究表明:(1)居群取样个体数和基因位点数差异对遗传多样性影响并不显著,但当居群取样个体数为30个左右,单引物基因位点数为60个以上,总位点数为480个以上时,所得遗传多样性及亲缘关系较为准确可靠.(2)较多数目的基因(引物)对于得到较为准确可靠的亲缘关系分析是十分必要的.(3)系统树构建方法对近缘种亲缘关系的确定有一定的影响.     

Synthetic polymers and their potential as genetic materials

DNA and RNA are the only known natural genetic materials. Systematic modification of each of their chemical building blocks (nucleobase, sugar, and phosphate) has enabled the study of the key properties that make those nucleic acids genetic materials. All three moieties contribute to replication and, significantly, all three moieties can be replaced by synthetic analogs without loss of function. Synthetic nucleic acid polymers capable of storing and propagating information not only expand the central dogma, but also highlight that DNA and RNA are not unique chemical solutions for genetic information storage. By considering replication as a question of information transfer, we propose that any polymer that can be replicated could serve as a genetic material. Editor's suggested further reading in BioEssays Xenobiology: A new form of life as the ultimate biosafety tool Abstract     

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.     

野古草种群克隆的遗传变异和遗传结构

用酶电泳法和同工酶分析对东北松嫩草原西北部野古草种群克隆遗传变异性和种群遗传结构做了探讨。讨论了遗传多样性、地理距离和遗传距离之间的关系、大种群和小种群的遗传变异性和种群间的基因流 ;种群间 ,包括大种群和小种群间基因流、遗传和地理距离对遗传多样性的影响、昆虫和风传粉、种群籽苗的补充、遗传多样性的发生和保持 ,自交不亲和性和无性繁殖及体细胞突变     

Contrasting demographic history and population structure in Capsella rubella and Capsella grandiflora, two closely related species with different mating systems

Both mating system and population history can have large impacts on genetic diversity and population structure. Here, we use multilocus sequence data to investigate how these factors impact two closely related Brassicaceae species: the selfing Capsella rubella and the outcrossing C. grandiflora. To do this, we have sequenced 16 loci in approximately 70 individuals from 7 populations of each species. Patterns of population structure differ strongly between the two species. In C. grandiflora, we observe an isolation-by-distance pattern and identify three clearly delineated genetic groups. In C. rubella, where we estimate the selfing rate to be 0.90-0.94, the pattern is less clear with some sampling populations forming separate genetic clusters while others are highly mixed. The two species also have divergent histories. Our analysis gives support for a bottleneck approximately 73 kya (20-139 kya) in C. rubella, which most likely represents speciation from C. grandiflora. In C. grandiflora, there is moderate support for the standard neutral model in 2 of 3 genetic clusters, while the third cluster and the total data set show evidence of expansion. It is clear that mating system has an impact on these two species, for example affecting the level of genetic variation and the genetic structure. However, our results also clearly show that a combination of past and present processes, some of which are not affected by mating system, is needed to explain the differences between C. rubella and C. grandiflora.     

SLiM: Simulating Evolution with Selection and Linkage

SLiM is an efficient forward population genetic simulation designed for studying the effects of linkage and selection on a chromosome-wide scale. The program can incorporate complex scenarios of demography and population substructure, various models for selection and dominance of new mutations, arbitrary gene structure, and user-defined recombination maps.     

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。     

A chimeric vector for efficient chromosomal modification in Enterococcus faecalis and other lactic acid bacteria

Aim: To construct a chimeric vector named pBVGh for quickly generating gene modifications in Enterococcus faecalis. Methods and Results: The constructed plasmid pBVGh carries the pG⁺host replicon (a thermosensitive (TS) derivative of pWV01), allowing a simple generation of mutants by growing colonies first at the permissive temperature and then switching the culture to the nonpermissive temperature. Additionally, this vector facilitates the screening of mutants by a rapid colorimetric blue‐white discrimination of plasmid‐free bacteria. Conclusions: The pBVGh vector allows a straightforward inactivation or modification of target genes as well as a fast selection of enterococcal mutant strains. Significance and Impact of the Study: The broad range of the TS replicon utilized in this plasmid permits the easy establishment and the efficient generation of food‐grade mutant strains in Ent. faecalis and several other Gram‐positive bacteria.     

三个黄颡鱼群体遗传多样性及亲缘关系的微卫星标记分析

利用微卫星标记技术对3个黄颡鱼群体(W S、TE和QF)的遗传多样性及亲缘关系进行研究。通过筛选的30个引物对3个黄颡鱼群体基因组DNA的扩增,获得了19个有效引物,其中有6个微卫星位点具有多态性,并计算出了3个黄颡鱼群体间的遗传相似系数和遗传距离,TE和QF群体间的遗传相似系数最大(0.8736),遗传距离最小(0.1790);W S和QF群体间的遗传相似系数最小(0.7284),遗传距离最大(0.2768)。同时运用聚类分析(UPGMA)的方法建立了3个黄颡鱼群体的系统发生树。     

SSR在琼海和三亚两普通野生稻居群中的遗传变异

通过分析37个SSR座位在琼海与三亚两普通野生稻（Oryza rufipogon）居群中的遗传变异,结果表明,SSR座位在三亚普通野生稻居群中的变异高于其在琼海普通野生稻居群中的变异。根据遗传相似性和遗传距离公式得到琼海与三亚普通野生稻居群间的遗传相似性为0．6385,遗传距离为0．4486cM。Wright的啪验结果表明,这37个SSR座位在两居群之间存在着中等程度的遗传分化,FST=0．3909。此分化结果主要是由两居群间弱的基因漂移导致的（Nm=0．3895）。