新疆克里雅河下游圆沙古城古代居民线粒体DNA多态性研究

圆沙古城位于新疆塔克拉玛干沙漠的中心地区, 地处古丝绸之路的南线. 本实验以距今2000~2500年前的圆沙古城15例古代居民的线粒体DNA (mtDNA)为研究对象. 系统发育及多维度分析结果表明圆沙古城古代人群与现代中亚南部人群、印度河流域人群以及新疆察吾呼古代人群间存在着相对较近的遗传距离.     

27-plex SNP种族推断方法的优化及验证

人类学中常将人群分为东亚黄种人、欧洲白种人和非洲黑种人。27-plex SNP种族推断体系可针对来自东亚、欧洲、非洲及欧亚混合人群的样本进行分型检测进而推断其祖先来源。本研究对该体系获取样本分型后的种族推断分析方法进行了进一步优化,建立了一种基于似然比、祖先成分和种族归类的推断分析方法,并对4个来自东亚、欧洲、非洲及其混合人群的测试样本进行种族来源推断。使用基础参考数据库交叉验证和1010份测试样本验证两种方式进行了种族推断方法流程的评估研究。验证结果表明该方法体系在东亚、欧洲、非洲及欧亚混合人群中的推断准确性均高于99%。本种族推断方法可对DNA来源人的种族信息进行刻画,在人类分子遗传学、法医遗传学等领域有重要的应用价值。     

从头骨形态学和古DNA探究公元3～4世纪西藏阿里地区人群的来源

中国社会科学院考古研究所和西藏自治区文物保护研究所于2012年至2014年间在西藏阿里地区噶尔县发现了一个古代墓群,称为故如甲木墓地。其中8座墓葬的时代约为公元3-4世纪,相当于中原的汉晋时期。共发现32例个体,对其中保存较好的16例个体（7例男性,9例女性）的头骨进行了形态观察和测量分析。聚类分析结果显示故如甲木古代居民与四川卡莎湖古代居民最接近,相比与陕西、山西、河南等地区古代居民的关系,故如甲木居民与新疆多岗和察吾乎四号墓地的古代居民更为接近。与近现代人群比较,故如甲木与广西壮族和藏族A型的现代居民接近。线粒体DNA的分析结果表明,故如甲木居民的母系来源多元化,大多数为欧亚东部类群,也有少量是欧亚西部类群,他们对中国现代藏族人群以及西藏的其他一些民族具有母系遗传的贡献。     

中国西北地区古代人群头骨的欧洲人种特征

位于中国西北部的新疆、甘肃、青海、宁夏是东亚与欧洲交汇的地区。一般认为生活在这一区域的古代人群与欧洲人群发生过融合或基因交流。但学术界对欧洲人群进入中国, 与中国古代人群发生混合与基因交流的时间、可能的扩散路线, 以及对中国现代人群形成的影响等具体细节还不是很清楚。本文对3800-1200年前生活在新疆、青海、宁夏, 以及河南安阳殷墟11个古代人群头骨呈现的欧洲人种特征进行了检测, 结果表明: 1)至少在2000-3000年前, "西方基因"已经在我国多个地区人群中存在; 2)这些"西方基因"是经由新疆向东流向内地的; 3)考古学和形态学上的证据显示欧洲人种的人群大规模地向东扩展在汉代之前的地理界限大致是在新疆的东部和甘肃的西部之间。本文所示的欧洲人种特征的出现情况, 并不受这种地理和时代的制约。     

30个祖先信息位点的筛选及应用

摘要：目的 筛选一组祖先信息SNPs位点（AIMs,Ancestry Informative Markers）,构建复合检测体系,用于东亚、欧洲和非洲人群遗传成分描述及个体种族来源推断。方法 以HapMap数据库9个人群的658份样本的分型数据为基础,从30个表型相关基因总共282个SNPs位点中筛选出30个AIMs位点,基于微测序-通用芯片技术构建复合检测体系,并建立人群等位基因频率数据库。使用这组位点分析HapMap数据库中658份人群样本,初步验证位点的区分效能;然后,使用研究构建的体系检验收集的5个人群194份无关个体的DNA样本。最后,通过Structure软件分析获取人群的成分构成以及个体的遗传成分,对个体样本进行种族来源推断。 结果 筛选的30个AIMs位点符合哈迪温伯格平衡（p>0.01）,位点之间没有连锁（r2<0.1）, 658份HapMap数据库样本和194份实验样本的祖先成分分析结果与已知结果完全一致。 结论 本文筛选并建立的30个AIMs位点复合检测体系,能够有效实现东亚、欧洲、非洲人群及混合人群的成分构成和个体遗传成分的分析,有效控制遗传连锁分析中由于人群分层现象带来的误差,也可以用于法医DNA检验中个体祖先来源推断。     

陶寺中晚期人骨的种系分析

本文对陶寺文化中晚期墓葬和灰坑中的人骨进行了性别年龄的鉴定和种族类型的分析, 并报告了人骨古DNA的分析结果。DNA的分析结果表明墓葬中的人骨和灰坑中的人骨在单倍型的分类上没有差别, 属于中国北方人群的常见单倍群。头骨测量特征的多元统计分析显示出灰坑的人骨与二十世纪发掘的陶寺文化早期墓葬中出土的人骨形态距离较远。这个结果可能暗示着陶寺早期人群和中晚期的人群可能有不一样的来源, 期望未来对这两个人群的直接的DNA对比结果会有助于来源问题的解决。     

从蒙古人种典型体质特征发生率谈维吾尔族人种构成及演化

探讨维吾尔族的族源、人种构成、体质特征及演化过程可以更好地揭示该民族的历史与文化变迁的过程,有益于对该民族的保护和促进发展。关于维吾尔族的族源、人种构成及演化过程一直是争论的热点之一。考古人类学,尤其是分子考古的成果显示,新疆古代居民种族来源不是单一的,人种地理分布主要包含欧罗巴人种和蒙古人种两大成分,同时也有两大人种之间过渡的混血类型构成新疆地区复杂的人种类型。现代新疆维吾尔族体质特征和遗传性状的多态性,特别是不同地区维吾尔族之间的差异,无疑和这种古代复杂的种族生物学背景密切相关。现代维吾尔族主要表现蒙古人种的体质特征,表明现代维吾尔族的人种来源主要是蒙古人种。而部分蒙古人种标志性体质特征在维吾尔族的发生率介于欧罗巴人种和蒙古人种之间,显示现代维吾尔族具有相当成分的欧罗巴人种血统。蒙古人种标志性体质特征在新疆维吾尔自治区不同地区维吾尔族中发生率不同并呈现出东西方向梯度性变化趋势,体现现代维吾尔族在形成过程中,蒙古人种成分是由东部逐渐向西部渗入和融合的。     

内蒙古宁城山嘴子辽墓契丹族颅骨的人类学特征

本文对内蒙古自治区赤峰市宁城县山嘴子辽代墓地出土的古代契丹族颅骨的人类学特征进行了研究。9例男性颅骨和3例女性颅骨中的大多数标本在种族特征上均可归入现代亚洲蒙古人种中的西伯利亚(北亚)人种范畴,少数标本中的个别特征则显示出某种程度上的东亚人种或北极(东北亚)人种的影响。在若干古代和近代对比组中,山嘴子辽代契丹族的体质特征分别与汉代鲜卑族和近代蒙古族最为接近。     

青海大通上孙家寨古代居民mtDNA遗传分析

利用古DNA手段对考古发掘出土的人类遗骸进行遗传分析, 是揭示当地古代人群来源的重要手段。我们通过克隆测序和PCR-RFLP的方法, 从来自青海大通上孙家寨的约3000-3300年前和2000年前两个不同年代的牙齿样本中, 成功得到59个线粒体高变I区和编码区的SNP位点的序列信息。之后我们将所得序列与来自亚洲大陆的34个现代人群共1833个个体和2个不同年代的古代人群样本的线粒体序列分别在个体和群体水平上作比较,结果表明这两个时期人群并不是一脉相承的。     

扎赉诺尔汉代墓葬第三次发掘出土颅骨的初步研究

本文对内蒙古自治区呼伦贝尔盟新巴尔虎右旗扎赉诺尔汉代游牧民6族墓葬第三次发掘出土的颅骨进行了人种学研究。五例男性颅骨和三例女性颅骨的种族特征基本相似，均与现代亚洲蒙古人种中的西伯利亚（北亚）蒙古人种最为接近本文材料是对过去已恨表的扎赉诺尔汉代游牧民族颅骨资料的重要补充。     

Patterns of morphological evolution in Marmota (Rodentia, Sciuridae): geometric morphometrics of the cranium in the context of marmot phylogeny, ecology and conservation

Marmots are of great interest for both sociobiologists studying the evolution of mammal societies and conservationists trying to protect them from extinction. In contrast, their phylogeny and morphological evolution are poorly understood and studied. Recently, a phylogenetic analysis using cytochrome b provided the first reconstruction of marmot evolutionary history and suggested that a high level of sociality evolved at least twice independently in the two proposed marmot subgenera. A morphological analysis of the marmot mandible supported this subgeneric classification and showed interesting, and unexpected, patterns in the evolution of marmot skeletal characters. In the present study we investigated a more complex, and potentially informative structure, the ventral cranium. Geometric morphometric techniques were applied in the first analysis of cranial morphology including all marmot species. Three main phenetic groups were found, which reflect phylogeny (subgenus Petromarmota , and Palaearctic subgenus Marmota ) or geographical distribution (Palaearctic vs. Nearctic subgenus Marmota ). Convergence in skeletal characters due to size similarities, a common finding in the sciurid skeleton according to traditional morphological analyses, did not occur in the marmot ventral cranium. Despite a genetic distance between Marmota vancouverensis and Marmota caligata similar to that among different populations of the latter species, the Vancouver Island marmot had the most atypical ventral cranium in the subgenus Petromarmota . This finding confirmed results obtained with the mandible, and emphasized the uniqueness of M. vancouverensis and the usefulness of complementing molecular analyses with morphological studies for a thorough characterization of population divergence, and a careful planning of conservation strategies.  © 2004 The Linnean Society of London, Biological Journal of the Linnean Society , 2004, 82 , 385–407     

山东临淄周-汉代人骨种族属性的讨论

本文指出植田信太郎等用同样比较方法先后发表的山东临淄周汉代人骨遗传学研究文章结果的不一致 ,提示这种遗传学研究结果可能受到一些未知的因素影响。同时认为他们文章中提出的 2 5 0 0年以前山东人、2 0 0 0年以前山东人、现代山东人分别具有与现代欧洲人、现代中西亚人、现代东亚人相近的遗传距离的结果与中国境内古代人骨的种族形态学研究结果不相符合。     

Horse‐mounted invaders from the Russo‐Kazakh steppe or agricultural colonists from western Central Asia? A craniometric investigation of the Bronze Age settlement of Xinjiang

Numerous Bronze Age cemeteries in the oases surrounding the T?klamakan Desert of the Tarim Basin in the Xinjiang Uyghur Autonomous Region, western China, have yielded both mummified and skeletal human remains. A dearth of local antecedents, coupled with woolen textiles and the apparent Western physical appearance of the population, raised questions as to where these people came from. Two hypotheses have been offered by archaeologists to account for the origins of Bronze Age populations of the Tarim Basin. These are the "steppe hypothesis" and the "Bactrian oasis hypothesis." Eight craniometric variables from 25 Aeneolithic and Bronze Age samples, comprising 1,353 adults from the Tarim Basin, the Russo-Kazakh steppe, southern China, Central Asia, Iran, and the Indus Valley, are compared to test which, if either, of these hypotheses are supported by the pattern of phenetic affinities possessed by Bronze Age inhabitants of the Tarim Basin. Craniometric differences between samples are compared with Mahalanobis generalized distance (d2), and patterns of phenetic affinity are assessed with two types of cluster analysis (the weighted pair average linkage method and the neighbor-joining method), multidimensional scaling, and principal coordinates analysis. Results obtained by this analysis provide little support for either the steppe hypothesis or the Bactrian oasis hypothesis. Rather, the pattern of phenetic affinities manifested by Bronze Age inhabitants of the Tarim Basin suggests the presence of a population of unknown origin within the Tarim Basin during the early Bronze Age. After 1200 B.C., this population experienced significant gene flow from highland populations of the Pamirs and Ferghana Valley. These highland populations may include those who later became known as the Saka and who may have served as "middlemen" facilitating contacts between East (Tarim Basin, China) and West (Bactria, Uzbekistan) along what later became known as the Great Silk Road.     

The evolution of viviparity within the Australian scincid lizardLerista bougainvillii

The semi-fossorial scincid lizard, Lerista bougainvillii , is oviparous throughout its extensive range in south-eastern mainland Australia. However, two widely separated (by approximately 1000 km) island populations are viviparous; in these populations the eggshell is lost and females retain their offspring in utero until embryogenesis complete. One mainland population in south-eastern Victoria shows an intermediate condition, in which the eggshells are incomplete and uterine embryogenesis is prolonged.
Morphological and electrophoretic analyses confirm a high degree of morphological and genetic similarity between populations (i.e. there is no evidence for the presence of more than one species), and phenetic analyses of these data show that each of the two disjunct viviparous populations more closely resembles adjacent oviparous populations than the other viviparous group. Hence, we infer that viviparity may have arisen twice within L. bougainvillii , in both cases on offshore islands with a cold climate.     

Morphological and allozyme variation of Eidolon helvum (Mammalia: Megachiroptera) in the islands of the Gulf of Guinea

Morphological and genetic variation is evaluated among populations of the bat, Eidolon helvum , in the islands of the Gulf of Guinea (Central Africa). The populations from the islands of Bioko, Principe, and Sao Tome do not show significant phenetic differentiation, although a trend towards a reduction of size is found in the latter two islands. The low genetic distances between populations, as well as their values of Wright's fixation indexes, suggest that gene flow has hampered differentiation on these islands. In contrast, the population from Annobon, the smallest and farthermost island, shows remarkable morphological and genetic differentiation. On the mainland, E. helvum displays unique migratory and dispersal behaviours, but migratory behaviour was not found in any of the island populations. The combination of selective forces in harsher oceanic environments and restricted gene flow among populations appears to have favoured the high degree of morphological differentiation of E. helvum on Annobon. Due to the extended length of the dry season in Annobon, an earlier achievement of sexual maturity–and consequently smaller size—may be advantageous in the absence of migration. The differentiation is more marked among females, which also suggests that selection may be linked to the reproductive pattern. The population of the island of Annobon is herein described as a new subspecies, Eidolon helvum annobonensis subsp. nov.     

Late Pleistocene human evolution in Sicily: comparative morphometric analysis of Grotta di San Teodoro craniofacial remains

The paleoanthropological remains from Grotta di San Teodoro near Acquedolci (province of Messina, Italy) represent the oldest and largest skeletal collection yet found documenting human settlement of Sicily. The sample, attributed to the Late Epigravettian (between 14,000 and 10,000 years B.P.), consists of seven variously complete adult individuals (San Teodoro 1–7). We compare the cranial sample to an array of both prehistoric and recent samples using multivariate techniques including D² distance analysis, canonical variate analysis, cluster analysis, and multidimensional scaling. Overall, the San Teodoro cranial sample displays a morphometric pattern close to Western European groups of similar antiquity, in particular those from Central and Southern Italy. The morphometric affinities indicate that these people probably came from peninsular Italy by sea during the Late Epigravettian epoch. An alternative hypothesis is that they descended from immigrants that arrived by land during a low sea level episode corresponding to the maximum Würmian regression, about 18,000 years B.P, with gene flow accounting for the morphological homogeneity with the populations of peninsular Italy. The San Teodoro skeletal sample provides the first reliable evidence for human settlement of Sicily.     

Phylogenetic and population structural inference from genomic ancestry maintained in present‐day common wheat Chinese landraces

Hexaploid common wheat is one of the most important food crops worldwide. Common wheat domestication began in the Fertile Crescent of the Near East approximately 10 000 years ago and then spread west into Europe and eastward into East Asia and China. However, the possible spreading route into and within China is still unclear. In this study, we successfully extracted DNA from single ancient wheat seeds and sequenced the whole genome of seven ancient samples from Xiaohe and Gumugou cemeteries in Xinjiang, China. Genomic inference and morphological observation confirmed their identity as hexaploid common wheat grown in prehistoric China at least 3200 years before present (BP). Phylogenetic and admixture analyses with RNA‐seq data of modern hexaploid wheat cultivars from both China and Western countries demonstrated a close kinship of the ancient wheat to extant common wheat landraces in southwestern China. The highly similar allelic frequencies in modern landraces of the Qinghai‐Tibetan plateau with the ancient wheat support the previously suggested southwestern spreading route into highland China. A subsequent dispersal route from the Qinghai‐Tibetan plateau margins to the Yangtze valley was proposed in this study. Furthermore, the common wheat populations grown in the Middle and Lower Yangtze valley wheat zones were also proposed to be established by population admixture with the wheat grown in the Upper Yangtze valley. Our study reports ancient common wheat sequences at a genome‐wide scale, providing important information on the origin, dispersal, and genetic improvement under cultivation of present‐day wheat landraces grown in China.     

Y chromosomal DNA variation and the peopling of Japan.

Four loci mapping to the nonrecombining portion of the Y chromosome were genotyped in Japanese populations from Okinawa, the southernmost island of Japan; Shizuoka and Aomori on the main island of Honshu; and a small sample of Taiwanese. The Y Alu polymorphic (YAP) element is present in 42% of the Japanese and absent in the Taiwanese, confirming the irregular distribution of this polymorphism in Asia. Data from the four loci were used to determine genetic distances among populations, construct Y chromosome haplotypes, and estimate the degree of genetic diversity in each population and on different Y chromosome haplotypes. Evolutionary analysis of Y haplotypes suggests that polymorphisms at the YAP (DYS287) and DXYS5Y loci originated a single time, whereas restriction patterns at the DYS1 locus and microsatellite alleles at the DYS19 locus arose more than once. Genetic distance analysis indicated that the Okinawans are differentiated from Japanese living on Honshu. The data support the hypotheses that modern Japanese populations have resulted from distinctive genetic contributions involving the ancient Jomon people and Yayoi immigrants from Korea or mainland China, with Okinawans experiencing the least amount of admixture with the Yayoi. It is suggested that YAP+ chromosomes migrated to Japan with the Jomon people > 10,000 years ago and that a large infusion of YAP- chromosomes entered Japan with the Yayoi migration starting 2,300 years ago. Different degrees of genetic diversity carried by these two ancient chromosomal lineages may be explained by the different life-styles (hunter-gatherer versus agriculturalist). of the migrant groups, the size of the founding populations, and the antiquities of the founding events.     

Cranial trauma in iron age Samnite agriculturists, Alfedena, Italy: implications for biocultural and economic stress

The Samnites are an Iron Age protohistoric people from the central region of Italy. The skeletal remains are from the Alfedena necropolis, 6th through 5th centuries B.C. Macchiarelli et al. (Antropologia Contemporanea 4 (1981) 239-243) were the first to report on cranial trauma for this population, presenting four cases with extreme injuries. We re-examined this well documented skeletal population for additional examples of trauma. Previously unexamined remains from Alfedena, excavated at the turn of the 20th century, are also included in our analysis (Mariani. 1901. "Aufidena", ricerche archeologiche e storiche del Sannio settentrionale. Roma: Acc Naz Dei Lincei). Of the 209 adult crania examined, 12.9% of them exhibited trauma. Analysis of location and frequency of cranial trauma revealed that cranial injuries to the head appear to originate from all directions. The high rate of cranial trauma underscores the violent circumstances experienced during the Iron Age protohistoric period of central Italy. Males are much more likely to exhibit cranial injury than females (P = 0.009). We conclude that the injuries received by Samnite male farmer-warriors occurred while defending pastoral-agricultural resources. Trauma rates are similar for some Iron Age populations and not for others. Behavior associated with violence during the Iron Age period can not be generalized for all populations found in Italy.     

中国西北地区天然胡杨群体遗传多样性及核心保护单元的构建

胡杨(Populus euphratica)是极端干旱荒漠区的珍稀乔木树种。为了确定天然胡杨群体遗传多样性保护单元并挖掘优异的种质资源, 本研究以中国西北地区新疆、青海、甘肃、宁夏、内蒙古的58个天然胡杨群体为研究对象, 利用120个位点的SNPs标记对这些胡杨群体进行群体遗传结构和遗传多样性分析, 并根据不同群体间Nei’s遗传相似度, 采用逐步聚类优先取样法对初始群体、遗传多样性保护单元和剩余群体进行t检验。群体结构和主成分分析表明, 胡杨群体可分为新疆南疆(SX)、新疆北疆(NX)、青海(QH)和混合群(甘肃、宁夏和内蒙古混合群, GNM) 4个分支, 遗传多样性分析表明新疆南疆(SX)遗传多样性高于其他群体。分子方差分析(AMOVA)表明天然胡杨群体的遗传变异主要分布在各个群体内。构建了天然胡杨群体一级核心保护单元3个群体(CU3), 二级核心保护单元33个群体(CU33)。南疆存在较多优异抗逆的天然胡杨古树资源, 南疆分布区的平均遗传多样性水平最高。综上所述, 南疆地区胡杨古树遗传多样性整体高于北疆及疆外地区, 结合新疆地区干旱严重指数等生境信息, 建议加大对南疆胡杨古树群体的保护力度, 重视北疆胡杨林的更新换代。