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[前瞻]ASHG 2009 年会:亚洲人的直发基因同时引起铲形门齿

本帖最后由 ranhaer 于 2009-9-12 08:41 编辑

A nonsynonymous SNP in EDAR is associated with tooth shoveling
Teeth display variations among individuals in the size and the shape of cusps, ridges, grooves, and roots. In addition, there are certain dental characteristics which are predominant in certain human groups, such as tooth shoveling of upper incisors that is major in Asian populations but rare or absent in African and European populations. The common characteristics of dental morphology are thought to be determined mainly by genetic factors. However, genetic polymorphisms associated with dental morphology have not been elucidated yet. In humans, the ectodysplasin A receptor gene (EDAR) as well as the ectodysplasin A gene (EDA) is know to be responsible for hypohidrotic ectodermal dysplasia, a genetic disorder causing abnormal morphogenesis of teeth, hair, and eccrine sweat glands. Human genome diversity data have revealed that the derived allele of a nonsynonymous single nucleotide polymorphism (SNP), rs3827760 that is also called EDAR T1540C, is predominant in East Asian populations but absent in populations of African and European origins. It has recently been reported that the 1540C allele is associated with Asian-specific hair thickness. The aim of this study is to clarify whether the nonsynonymous polymorphism in EDAR is also associated with dental morphology in humans or not. For this purpose, we measured crown diameters and tooth shoveling grades, genotyped EDAR T1540C, and analyzed the correlations between them in Japanese populations. To comprehend individual patterns of dental morphology, we applied a principal component analysis (PCA) to individual-level metric data, the result of which implies that multiple types of factors affect the tooth size. This study clearly demonstrated that the number of the Asian-specific EDAR 1540C allele is strongly correlated with the tooth shoveling grade. The SNP significantly affected PC1 and PC2 in PCA, which denotes overall tooth size and the ratio of mesiodistal diameter to buccolingual diameter, respectively. Our study revealed a main genetic determinant of tooth shoveling that has classically received great attention from dental anthropologists. Further studies using powerful DNA technology will lead to clearer understanding about genetic factors for phenotypic variations in tooth morphology such as Carabelli’s tubercle, the numbers of cusps and roots, and the size balances shown in metric measurements.

ASHG 2009 年会的摘要:
http://www.ashg.org/2009meeting/ ... earch_page-04.shtml

疁殇1958 发表于 2009-9-10 21:03
呵呵, 蒙古人种的标志性基因, 且与体质的标志性特征对应, 不错. 一些相关文献:

Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form, 2008, 文献摘要中说东亚高频的EDAR370A类型相对他的始祖类型EDAR370 V有更强的表型。没找到免费的全文。

A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia, 2008, 另一篇针对泰国、印尼、日本人的研究。
Abstract Content
Phylogeographic characterisation of mtDNA lineages from Northern Thailand. J. Horst1, B. Zimmermann2, M. Bodner2, S. Amory2, 3, 4, L. Fendt2, A. Röck5, D. Horst6, B. Horst7, T. Sanguansermsri8, W. Parson2, A. Brandstätter9 1) Institut für Humangenetik, Universität Münster, Münster, Germany; 2) Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria; 3) Laboratory of Molecular Anthropobiology, Institute of Legal Medicine, Strasbourg, France; 4) International Commission on Missing Persons, Sarajevo, Bosnia and Herzegovina; 5) Institute of Mathematics, University of Innsbruck, Innsbruck, Austria; 6) Pathologisches Institut der Ludwig-Maximilians-Universität München, Germany; 7) Department of Surgical Pathology, Columbia University, New York, USA; 8) Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand; 9) Division of Genetic Epidemiology, Innsbruck Medical University, Innsbruck, Austria.

   Footprints in the genetic composition of Thai mitochondrial DNA (mtDNA) lineages have been left by the immigration of ethnical minorities from surrounding countries into Thailand. The entire mtDNA control region (1122 bp) was typed in 190 unrelated male volunteers from the Northern Thailand province of Chiang Mai following highest quality standards. For a more precise haplogroup classification, selected SNPs from the mtDNA coding region were genotyped. Quasi-median networks were constructed for visualization of character conflicts. The data were put into population-genetic relationships with other Southeast Asian populations. We found several new, so far undescribed mtDNA lineages. Although the frequencies of the Thai haplogroups were characteristic for Southeast Asia in terms of haplotype composition and genetic structure the Thai population was significantly different from other Southeast Asian populations.

Abstract Content
Haplogroup H of mitochondrial DNA, a far echo of the West in the heart of Central Asia. S. R. Woodward1, U. A. Perego1,2, J. E. Gomez-Palmieri1, N. Angerhofer1, D. Tumen3, K. H. Ritchie1, B. Hooshiar Kashani2, M. Pala2, A. Olivieri2, V. Carossa2, E. Myagmar3, H. Lancioni4, F. Panara4, N. Babudri4, D. Bayarlkhagva3, M. Bayarlkhagva3, A. Dyikanbaeva5, A. Torroni2, N. M. Myres1, A. Achilli2,4 1) Sorenson Molecular Genealogy Foundation, Salt Lake City, Utah, USA; 2) Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy; 3) National University of Mongolia, Ulan Bator, Mongolia; 4) Dipartimento di Biologia Cellulare e Ambientale, Università di Perugia, Perugia, Italy; 5) American University of Central Asia, Bishkek, Kyrgyz Republic.

   Through the millennia, Inner Asia played a pivotal role in shaping the history that greatly added to the cultural, ethnic, and genetic diversity observed throughout present Eurasia. Perhaps the two most significant phenomena witnessed in this part of the world were the ambitious expansion strategy employed by Mongolia’s most prominent personality, Genghis Khan and the complex network known as the Silk Road that for nearly 3,000 years contributed to the exchange of goods and the transmission of philosophy, art, and science that laid the foundation for the great civilizations of China, India, Egypt, Persia, Arabia, and Rome, and in several respects to the modern world. Over the last few years, through an international collaborative effort, researchers at the Sorenson Molecular Genealogy Foundation were able to collect 2,727 DNA samples, informed consents, and genealogical data in Mongolia, Kyrgyzstan, and Kazakhstan. All the samples were sequenced for the three hypervariable segments of the mitochondrial DNA (mtDNA) control region to assess the genetic composition of the modern population of these countries. We identified ~600 different haplotypes that could be ascribed to more than 30 haplogroups and sub-haplogroups. As expected, most haplogroups are typical of modern East Asian populations, but intriguingly, many different Western Eurasian clades were also identified, with a particular high incidence of H (~8.0%), the most common haplogroup in Europe. This feature cannot be attributed to genetic drift since different H sub-lineages have also been identified, each of them represented by several different haplotypes. The mtDNA distribution profile in the heart of Central Asia suggests a direct link between this area and Western Eurasia that could be explained by ancient migrations or by more recent historical events, such as Genghis Khan’s conquering efforts and trade or cultural exchanges along the Silk Route. To discriminate between these two possible scenarios, we are now analyzing a subset of these samples at the highest possible level of resolution - that of complete mtDNA sequences - focusing particularly on those H mtDNAs that seem to be the most informative considering their control-region haplotypes. Our preliminary data seems to be in favor of rather ancient genetic inputs from the West in shaping the peculiar mtDNA gene pool of Inner Asia’s present-day populations.

mtDNA单倍群 H ,与丝绸之路人群的关联。
Abstract Content
The origin of the population on Ontong Java, a Polynesian Outlier in the Solomon Islands, based on the genetic diversity of mtDNA. M. Christiansen1, R. Kuschel2, A. E. Christensen3, P. L. Hedley1,4, C. M. Hagen1, D. Schmidt1, F. H. Aidt1, D. V. Møller1 1) Dept Clinical Biochemistry and Immunology, Statens Serum Inst, Copenhagen, Denmark; 2) Institute of Psychology, University of Copenhagen, Copenhagen, Denmark; 3) Department of Geography and Geology, University of Copenhagen, Denmark; 4) Department of Biomedical Sciences, University of Stellenbosch, Cape Town, South Africa.

   Ontong Java (also known as Lord Howe Atoll) is a large atoll in the South West Pacific consisting of 120 islands located 220 km north of Santa Isabel in the Solomon Islands. The total population comprises 3,000 persons, of which 1,850 reside on the island. The remaining population live elsewhere in the Solomon Islands or abroad. Ontong Java is one of numerous Polynesian Outliers in Melanesia; there is also an apparent Micronesian cultural influence and little is known about the origin of the population. In order to establish the origin of the maternal gene pool we collected cheek swabs from 36 persons, representing all unrelated "ramages" (where the members are unrelated at least beyond first cousins) on Ontong Java. Mitochondrial DNA was extracted from 32 samples and the control region was sequenced. The presence of the COII/tRNALys 9 bp deletion was also ascertained and 24 persons (75%) were carriers. In total 10 different haplotypes were identified. Eight haplotypes, comprising 24 persons, belonged to the B4a haplogroup, occuring with a near 100% prevalence in central Polynesia, and two haplotypes, identified in eight persons, belonged to the M7c1 haplogroup, previously found in Micronesia and South East Asia. Twenty-one individuals (66%) had the full Polynesian motif. The B4a cluster comprised a star-like subcluster in an MJ network and three more distant haplotypes. The greater diversity in the B4a haplotypes compared to the M7c1 haplotypes suggests the the Polynesian-derived population may be older than the likely Micronesian-derived population element. An alternative and supplementary explanation is the extensive inter-island contact among the Central Polynesian Outlier atolls. The present population of Ontong Java most likely has a mixed Polynesian and Micronesian origin on the maternal side. The genetic diversity in the B4a haplogroup is compatible with a single expanding Polynesian-derived population in combination with additions from other Polynesian Outliers.

所罗门群岛 翁通瓜哇群岛 人群的mtDNA 与波利尼西亚人的起源。
Effect of natural selection on North Asian mitochondrial haplogroup variation. M. Derenko1, B. Malyarchuk1, T. Grzybowski2, G. Denisova1, U. Rogalla2, M. Perkova1, I. Dambueva3, I. Zakharov4 1) Genetics Laboratory, Institute of Biological Problems of the North, Russian Academy of Sciences, Magadan, Russian Federation; 2) Forensic Medicine Institute, the Ludwik Rydygier Medical College, the Nicolaus Copernicus University in Torun, Bydgoszcz, Poland; 3) Institute of General and Experimental Biology, Russian Academy of Sciences, Ulan-Ude, Russian Federation; 4) Animal Comparative Genetics Laboratory, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russian Federation.

   The human mtDNA exhibits striking, region-specific sequence variation. The regional distribution of mtDNA haplogroups have attributed either to genetic drift assisted by purifying selection (Elson et al., 2004; Kivisild et al., 2006; Ingman, Gyllensten, 2007) or to an adaptation to different climates (Mishmar et al., 2003; Ruiz-Pesini et al., 2004). In an attempt to study the mode of selection in mtDNA variation in human populations we sequenced and analyzed 211 complete mtDNA sequences belonging to haplogroups A, C and D accounting in total for 49.3% of mtDNA lineages in North Asia. The North Asian haplogroups A, C and D showed a highly significant deviation from the standard neutral model as well as a bell-shaped distribution of pairwise differences consistent with rapid population expansion. To determine the overall importance of selection in shaping human mtDNA variation we calculated Ka/Ks ratio both for aggregated mtDNAs and for 13 protein-encoding genes within particular haplogroups (A, C and D). We have found a prevalence of Ks over Ka within haplogroups A, C and D indicating the influence of negative selection on mtDNA during evolution. Consistent with some previous reports we have found the Ka/Ks ratio for the ATP6 gene to be the highest among the North Asian sequences suggesting thereby that this gene has been subject to positive selection. We have also observed a set of genes with a somewhat higher Ka/Ks ratio relative to other mitochondrial genes - CO2 for haplogroup A, ND3 and ND4 for haplogroup C. Meanwhile the other approach taking into account the difference in NS/S ratios between the haplogroup-associated and private substitutions (Elson et al., 2004) shows the significant departures from neutrality only for haplogroup D and its subhaplogroup D4. Furthermore single gene analysis reveals the relatively strong influence of negative selection only in CYTb gene within haplogroup D (p=0.011, NI=14.1). In general, our results indicate that there is an evidence for both gene-specific and lineage-specific variation in selection acting on North Asian mtDNAs. This study was supported by Russian Foundation for Basic Research grant 07-04-00445 and by Far-East Branch of the Russian Academy of Sciences grants 09-III-A-06-220 and 09-I-P-23-10.

本帖最后由 ranhaer 于 2009-9-17 18:24 编辑

Selection for blue eyes in Europe and light skin pigmentation in East Asia at OCA2/HERC2. M. P. Donnelly, W. C. Speed, J. R. Kidd, A. J. Pakstis, K. K. Kidd Dept Gen, Yale Univ Sch Med, New Haven, CT.

   OCA2 and HERC2 are two genes on chromosome 15 separated by less than 10 kb. Mutations in this region have been shown to have an effect on pigmentation including causing oculocutaneous albinism type 2. In Europeans, a three SNP haplotype (rs4778138, rs4778241, rs7495174) and three individual SNPs (rs12913832, rs916977, rs1667394) have been associated with blue eyes. We have labeled the three SNP haplotype BEH1. We found that the first individual SNP, rs12913832, was in near complete LD with another SNP (rs1129038). We treat these two SNPs together as a haplotype, BEH2. We also found that the other two individual SNPs were actually in near complete LD with each other and decided to label them BEH3. In East Asians, a SNP (rs1800414) has been identified that is associated with a light skin pigmentation phenotype. We typed these eight SNPs in 64-70 population samples. We then examined worldwide distribution of the four pigmentation alleles. We saw that the light skin allele was at its highest frequency in eastern East Asia, at midrange frequencies in Southeast Asia, and at lower frequencies in western East Asia. It is virtually absent from the rest of the world. BEH1 and BEH3 show very similar global patterns, low frequencies to midrange frequencies in Africa and East Asia, midrange frequencies in India and Eastern Siberia, and midrange to high frequencies in Southwest Asia, Europe, Western Siberia, the Pacific Islands, and the Americas. BEH2 shows a different pattern from the other two. It shows low frequencies in East Africa, India, Eastern Siberia, and the Americas, midrange frequencies in Southwest Asians and Southern Europeans, and high frequencies in Eastern and Northwestern Europe and Western Siberia. We then typed additional SNPs and test each pigmentation allele for selection using the Relative Extended Haplotype Homozygosity (REHH) test. We found that the light skin allele of rs1800414 is under selection in East Asia and that the blue eye allele of BEH2 is under selection in Europe and Southwest Asia. We show light skin pigmentation has been selected for in East Asia. This is likely due to lower UV exposure at the higher latitudes (compared to equatorial Africa) and the need for lighter skin for vitamin D production. We also show that blue eyes are selected for in Europe. This is most likely due to sexual selection, though another unknown effect of this particular allele could be selected for and the blues eyes are a side effect.

东亚人群浅色素先相关基因: OCA2 and HERC2  

欧洲的蓝色虹膜和亚洲的浅肤色与OCA2 和HERC2面临的选择相关

     OCA2 和HERC2是第15号染色体上距离10 kb的两个基因。这一区域的突变已经被证明对色素沉淀有影响,比如2型白化病。 在欧洲,一个三个SNP组成的单倍型(rs4778138, rs4778241, rs7495174)和三个独立SNP(rs12913832, rs916977, rs1667394) 被证明与蓝色虹膜有关。我们将这个单倍型标识为BEH1。我们发现,三个独立SNP的第一个,rs12913832,与其他SNP(rs1129038)接近连锁不平衡. 我们将这两个SNP标识为BEH2。我们也发现,其余两个单个SNP也是连锁不平衡的,因此标识为 BEH3。此外在东亚,rs1800414已经被确定为色素沉淀相关表型。
    我们对64-70 个人群的样本检测了这8个SNP,然后分析4个单倍型在全世界的分布。我们发现,浅色素基因在东亚东部人群中最高频,在东亚东南部中频,在东亚西部低频并且在世界其他地方罕见。BEH1和BEH3有相同的分布:在非洲和东亚为低频至中频,在亚洲西南、欧洲、西伯利亚西部、太平洋岛屿和美洲土著中高频。 BEH2和这两个不同,它在东非、印度、西伯利亚东部和美洲低频,而在东欧、西北欧和西伯利亚西部高频。
    然后我们通过REHH检测这些SNP是否面临选择。结果,rs1800414在东亚人群中面临选择。BEH2在欧洲和亚洲西南不面临选择。因此,浅色素基因在东亚面临选择。这应取决于在高纬度地区的UV光照(相对于非洲)以及制造维生素D对浅肤色的需要。 同时,蓝色虹膜在欧洲也面临选择。这很有可能来自性选择,但也不排除其他因素也会造成影响。
疁殇1958 发表于 2009-9-10 21:03
本帖最后由 baiyueren 于 2009-9-13 11:58 编辑

NRY: O2a1c1a1a1a1a1a1a1a1(源自粤西云浮)
百越人的人类学文集 http://blog.sina.com.cn/baiyueren
High resolution CNV map of Asian population. H. Park1,2, J. Kim3,4, Y. Ju2,3, H. Kim3, C. Lee1, J. Seo2,3 1) Brigham & Womens Hospital, Harvard medical school, Boston, MA; 2) Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Korea; 3) Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Korea; 4) Psoma Therapeutics Inc., Seoul, Korea.

   The structural genomic copy number changes involve deletions and insertions of segments of genomic DNA spanning from 1 Kb to megabases in length and are present in all individuals. About 12% of the human genome is copy number variable with the CNVs contributing 0.12% to genomic variability seen within humans. Copy number variation (CNV) of DNA sequences is functionally significant but CNV map has yet to be fully established. The specific hypothesis is there remains a need to identify CNV that is smaller than 1Kb. We have constructed a high resolution of CNV map of the human genome through the study of 30 individuals from 3 populations with ancestry in Asia (Korean, Chinese and Japanese of the HapMap collection). We designed twenty four custom 1M feature 60mer in situ synthesized oligonucleotide arrays. Our design consisted of ~23.5M probes with ~100 bp between-probe resolution spaced uniformly across the entire human genome (whole genome tiling array). This high resolution array-based comparative genomic hybridization (aCGH) array set will allow us to interrogate the samples at a level not previously achieved, and will facilitate the identification of smaller CNV events which are often missed in lower resolution aCGH array. High resolution aCGH arrays will be used to identify complete CNV regions including common and different CNV regions from the genomic DNAs of 30 individuals from 3 populations. Approximately, 1,500 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 20 megabases were identified in each individual. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. In conclusion, this strategy will offer insights into the molecular basis and elucidate the role of CNVs.

东亚人群的拷贝数差异(CNV).   CNV是一种基因组多样性的新形式
本帖最后由 ranhaer 于 2009-9-17 18:42 编辑

Analysis of mitochodrial DNA polymorphism in Chinese Han,Miao,and Tu populations. N. bin1, z. hai yan2, T. sai nan3, y. zhao chu4, Z. yong hua5, C. yong6 1) medical genetics lab, Hunan family planning institute, Changsha, Hunan , China; 2) medical genetics lab,Hunan family institute,Changsha,Hunan,China; 3) medical genetics lab,Hunan family planning institute,Changsha,Hunan,China; 4) medical genetics lab,Hunan family planning institute,Changsha,Hunan.China; 5) medical genetics lab, Hunan family planning institute,Changsha,Hunan,China; 6) medical genetics lab , Hunan family planning institute,Changsha,Hunan,China.

   Analysis of mitochondrial DNA( mtDNA) is commonly performed in forensic investigations when the DNA in a sample is degreded or the amount is not sufficient for a STR analysis.However, mtDNA analysis has the draback of low discrimination power compared to what can be obtained by nuclear DNA analysis,owing to multiple individuals sharing identical mtDNA types in the HVI / HVII region.In this study,mtDNA sequences of the hypervariable regions HVI and HV IIand 15 SNP loci in mtDNA coding region were analyzed in 40 Chinese Han samples ,40 Miao minority ethnic group samples and 40 Tu minorityethni group samples from Hunan province,China as an initial effort to generate a database for forensic identification purposes.Comparing with Anderson sequence,98 polymorphic loci in HVI and 34 in HVII were found in total 120 individual samples, 90 and 65 haplotypes were then defined,respectively.Of 115 haplotypes,5 were shared by 2 individuals. When the HVI ,HVII and coding region were combined, only 1 haplotypes were shared by more than 1 individual.Thus,mitochondrial coding analysis can substantially increase the discriminatory power of mtDNA analysis.The random match probability and discrimination power in 120 individuls were 0.86% and 99.14%,respectively.

汉族、苗族和湖南土族的mtDNA多态分析。  湖南土族? 应是土家族?

综合HVI 、 HVII 和编码区数据,只有1例共享类型。
本帖最后由 ranhaer 于 2009-9-17 18:56 编辑

Genetic Differences of the Northern and Southern Han Chinese.
C. H. Chen, M. H. Su, T. H. Lu, J. Y. Wu, Y. T. Chen
Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.

   BACKGROUND Genetics evidences suggested that the Han people could be genetically differentiated into northern and southern Hans, separated by the Yangtze River. Two recently available data sets of Hans, the Chinese Han in Beijing (CHB) and the Chinese Han in Denver (CHD) of the HapMap  Project Phase III, were widely-referred but not yet fully examined accordingly. This study was aimed (1) to conduct a norm that could more accurately summarize the genome-wide genetic profiles of northern and southern Hans; (2) to genetically localize the two Han groups of the HapMap Project.
    METHODS Self-reported language/location group data and genotype data (Illumina Hap550duov3 chip) of 2,400 Hans were obtained from the National Clinical Core and the National Genotyping Center at Academia Sinica, Taipei, Taiwan. Data of three Asian samples, CHB, CHD and Japanese in Tokyo (JPT), were obtained from the HapMap project. Multidimensional scaling analysis on genome-wide identity-by-state (IBS) pairwise distances was performed to extract genetic information. Discriminant functions were then derived based on subsets of subjects having four grandparents with a same origin. Predict rate was estimated for the language/location groups.
    RESULTS Minnan and Hakka, two major Han groups in Taiwan, were correctly predicted as southern Hans (99.3% and 98.3%). Hans with origins in more northern or southern locations were also correctly predicted (> 95%). However, subjects from the places along the Yangtze River were difficult to predict. The overall predict rate was greater than 90%. For the HapMap Asian groups, the JPT group was completely separated from the Hans but showed a close relationship to the northern Hans; 64.6% of the 82 CHB subjects were categorized as northern Hans while only 24.3% for the 70 CHD subjects.
    SUMMARY Our algorithm was able to differentiate between the northern and southern Hans while the genetics differences between the two HapMap Han samples demand further analysis.

分析HapMap  Project上的北京汉族(CHB)和丹佛汉族 (CHD) 的遗传差异。同时研究更好的研究全体基因组差异的方法。同时加入了自己研究的闽南汉族和客家汉族的高密度SNP数据.  

结果:闽南汉族和客家汉族可以分别以99.3% 和 98.3%的概率确定为南方汉族.  南北方汉族的群体也可以被以> 95%的概率预知其地点。 但是,之前的研究所提出的长江界线无法预知。 64.6%的CHB样本可以被预知为北方汉族而只有24.3%的CHD可以被预知为北方汉族。

本帖最后由 ranhaer 于 2009-9-19 20:14 编辑

Genetic relationships among the ancient Chinese populations viewed from discrete cranial traits. J. Tan1,4, W. Q. Fu1,4, Y. G. He2, L. M. Li1, Y. Wang1, Z. Xu1, B. S. Li1, X. D. Chen1, K. X. Han3, H. Li1, L. Jin1,2 1) State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai 200433, China; 2) Chinese Academy of Sciences and Max Planck Society Partner Institute for Computational Biology, SIBS, CAS, Shanghai 200031, China; 3) Institute of Archaeology, Chinese Academy of Social Sciences, Beijing 100710, China; 4) Equally contributed. This study was supported by National Natural Science Foundation of China (3057101), Chinese National Science Fund For Distinguished Young Scholars (30625016), and Key Project of CMOST Natural Science Foundation (30890034).

   The discrete cranial traits are informative in revealing the genetic relationship of human populations. Given little available knowledge on these traits, especially their underlying genetic determinants, the primary aim of this study is to select a small number of traits that are sufficiently informative to represent genetic differentiation among East Asian populations. We studied overall 51 traits for 1,578 skulls from 19 necropolises, and found that 5 traits could capture the largest variation in East Asian populations studied. They are accessory mandibular foramen, palatine torus, mandibular torus, mastoid foramen extra-sutural, and infraorbital suture. The analysis on these 5 traits resulted in similar population relationships to that using all 51 traits. The study on discrete cranial traits could not only facilitate exploration of the genetic relationship of populations, and could also allow identification of the genes underlying these anthropological traits.

为了找到最有信息量的露骨性状以及它们的相关基因,我们分析了19个大型墓地1578个颅骨的51个形状,结果发现有5个性状可以描述大部分东亚人群的差异。它们是副下颌孔、腭圆枕、下颌圆枕、乳突孔副缝和眶下缝。 这个结果可用于研究人群的遗传关系,以及研究于这些性状相关的基因。
本帖最后由 ranhaer 于 2009-9-19 20:37 编辑

Y-SNPs analysis in Japanese male (Tokushima area). Y. Yoshida1,2, S. Kubo3, Y. Nakahori2 1) Tokushima Police Headquaters, Tokushima, Japan; 2) Department of Human Genetics, Institute of Healthbiosciences, The Tokushima University Graduate School, Tokushima, Japan; 3) Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.

   In recent years, many researches to discriminate Japanese people are investigated on the basis of the racial classification using SNP. Similarly, it is effective to detect Y-SNP in order to discriminate a Japanese male. In the Y-SNP classification, it is reported that ration of O, D, and C type occupy most in the Japanese male, and N and P system are minority. In general D type peculiar to Japanese is called “Jomon”, and most famous O type in Japan is called “Yayoi”. Also in our previous study, same three types s observed were high frequency, such as O type: 48.8%, D type: 27.3%, C type: 12.4% in the male of Tokushima prefecture. In our comparative study of 4 areas (Gunma, Fukui, Tokushima, Kagoshima), we experienced that a frequency difference was in these three types on Japan . And we could find the characteristics of each type, especially the C type was guessed moving linearly in the inside of Japan from the Y-STRs data of 9loci. Then, in this research we detected not only the 4 loci of P31 (O2), M122 (O3), M216 (C) and M174 (D) which have been used until previous study, but also the loci of M8 (C1), M217 (C3), P186 (O), M231 (N), and P230 (P). The detection method was improved so that regional difference could be examined in detail. We analyze quickly and simply by the Cycleave PCR method (Takara) using real-time PCR equipment. Since this method using a chimera probe has high sensitivity, prepared primer and the probe so that only mutant type could be detected, and detected 2 loci by PCR at once . The result was divided into each type of O, D, C, and N by 1st PCR, and further, the type of C and O were able to be separated into C1 / C3 and O2 / O3 by 2nd PCR. Moreover, the sample which has not been detected to the 1st PCR detected P type by P230. We introduce our examined method and its data about the male of Tokushima area in Japan. Reference: Yoshida Y. et al. Leg Med, 10 243-252 (2008).

O type: 48.8%, D type: 27.3%, C type: 12.4%。日本德岛男性的Y-SNP. 主要是介绍了 加测N,P的方法问题。
Super Y-chromosomes in Eurasia and the impact of social selection and Neolithic transition. P. L. BALARESQUE1,2, E. HEYER2, M. A. JOBLING1 1) Department of genetics, University of Leicester, Adrian Building, Leicester LE2 1WL, Leicestershire, United Kingdom; 2) Muséum National d'Histoire Naturelle - Centre National de la Recherche Scientifique-P7 Unité Mixte de Recherche 5145, Eco-Anthropologie, Musée de l'Homme, 75016 Paris, France.

   Some Y-chromosomal haplotypes have been found at unusually high frequencies in Asian and European human populations. The massive spread of these lineages has been explained by the impact of social selection i.e. the high reproductive success of some males and their relative/descendants due to their high social status. The most well-known examples are the “Khan haplotype” and the “Manchou haplotype” in Asia, and the U’Neill haplotype in Ireland. But are these frequent haplotypes always associated with recent events of social selection, or could they be linked to much older processes? To address this question, we have surveyed ~ 3500 males in 97 populations from Turkey to Japan. We have focused on the 12 most frequently represented haplotypes in Eurasia and tested whether their expansions are linked to a specific factor such as language or subsistence methods. Our results show that both recent and ancient processes are responsible for the expansions of these lineages. The recent expansions (2000-3000 years) likely to be linked to social selection are prevalent in Altaic-speaking and pastoral populations. This might indicate a recent cultural change in the social organization of these populations. The ancient expansions (8000-10000 years) are over-represented in Indo-European speaking and sedentary farmer populations, and are likely to be the result of the Neolithic transition.

Characterizing the history of sub-Saharan African gene flow into southern Europe. P. Moorjani1, N. Patterson2, J. Hirschhorn1,3, D. Reich1,2 1) Department of Genetics, Harvard Medical School, Boston, MA; 2) Broad Institute, Cambridge, MA; 3) Divisions of Endocrinology and Genetics and Program in Genomics, Children's Hospital, Boston, MA.

   Recent analyses of whole-genome SNP data sets have suggested a history of sub-Saharan African ancestral contribution into southern Europe but not in northern Europe, consistent with previous analyses based on the Y-chromosome and mitochondrial DNA. However, there has been no characterization of the proportion of African admixture in southern Europe, or of its date. Here we analyze data from ~450,000 autosomal SNPs in the Population Reference Sample, ~650,000 SNPs from the Human Genome Diversity Panel, and ~1.5 million SNPs from the HapMap Phase 3 Project, and studied patterns of correlation in allele frequencies across populations to confirm the evidence of African ancestry in many southern European populations but not in northern Europeans. Using methods that can infer admixture proportions in the absence of accurate ancestral populations, we estimated that the proportion of sub-Saharan African ancestry in Spain is 2.4 +/- 0.3%, in Tuscany 1.5 +/- 0.3%, and in Greece 1.9 +/- 0.7% (1 standard error). We also studied the decay of admixture linkage disequilibrium with genetic distance, which provided a preliminary estimate of the date of African gene flow into Spain of roughly 60 generations ago, or about 1,700 years ago assuming 28 years per generation. This date is consistent with the historically known movement of individuals of North African ancestry into Spain, although it is possible that this estimate also reflects a wider range of mixture times.

使用高密度SNP(近200万)数据研究 撒哈拉以南非洲对南欧的遗传影响。 非常稀少。
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