本文選題：HGDP-CEPH + Y-SNP��； 參考：《中國協(xié)和醫(yī)科大學(xué)》2009年博士論文

【摘要】：關(guān)于現(xiàn)代人類的起源一直存在著爭議,但目前絕大多數(shù)學(xué)者接受“走出非洲”學(xué)說,即認(rèn)為:十萬年前現(xiàn)代人起源于非洲的某個較小人群,隨著人口數(shù)量的不斷增長,逐步遷移到非洲以外的很多地方。在過去近三十年里,遺傳學(xué)不斷地滲透到人類起源的研究中,并且提供了眾多支持“走出非洲”學(xué)說的DNA分子水平證據(jù)。在此基礎(chǔ)上,有學(xué)者進(jìn)一步提出了“系列建立者模型”學(xué)說:當(dāng)撒哈拉以南非洲某個群體達(dá)到一定人口飽和度時,其中的一部分人就會遷移到遠(yuǎn)離其原居住地的另外一個地區(qū)建立一個新群體,當(dāng)新群體的人口再次增長到較高的飽和度時,就會發(fā)生第二次遷移,這個過程反復(fù)不斷,直至達(dá)到地球上最遠(yuǎn)的人類聚居點(diǎn)——美洲大陸。本研究應(yīng)用遺傳學(xué)數(shù)據(jù)和遺傳統(tǒng)計學(xué)原理系統(tǒng)地探討了這個過程中的人口變遷歷史,如世界不同地區(qū)群體的最近共同祖先年代(TMRCA)、有效群體的大小(Ne)、人口數(shù)量增長的起始時間以及人口的增長率等問題。 本研究應(yīng)用BATWING程序系統(tǒng)地分析了HGDP-CEPH(人類基因組多樣性計劃-人類基因組多樣性中心)樣本庫中代表全球絕大部分現(xiàn)代人群的51個群體,其中包括590例男性的37個Y-SNPs和65個Y-STRs基因型數(shù)據(jù)。BATWING程序根據(jù)輸入的遺傳學(xué)數(shù)據(jù)和先驗(yàn)參數(shù)(prior),用基于溯祖理論的馬爾科夫鏈蒙特卡羅算法模擬一系列(如十萬個)譜系樹(genealogical tree),同時計算符合每個譜系樹結(jié)構(gòu)的人口學(xué)后驗(yàn)參數(shù)(posterior),即TMRCA、Ne、人口數(shù)量增長的起始時間以及人口的增長率。在程序模擬達(dá)到平衡后,可以得出每個參數(shù)的后驗(yàn)估計及其可信區(qū)間。 在方法學(xué)上,本研究首先系統(tǒng)地分析了不同類型(簡單和復(fù)雜)的Y-STR、不同數(shù)量的Y-STR、樣本量的大小以及不同的STR突變率對人口學(xué)參數(shù)后驗(yàn)分布產(chǎn)生的影響。結(jié)果顯示:(1)不同類型的Y-STR對人口學(xué)參數(shù)的估計基本沒有影響。應(yīng)用較多的STR相對應(yīng)用較少STR具有一定的優(yōu)勢,可以推算出更準(zhǔn)確的TMRCA,所以在分析不同群體的人口學(xué)參數(shù)時,應(yīng)采用全部65個Y-STR;(2)樣本量為4個個體時(本研究所采用的最小的樣本量)即可提供有價值的人口學(xué)參數(shù)信息,不需要剔除或合并這樣的群體;(3)將三種STR突變率(rEMR,EMR和OMR)分別應(yīng)用于對51個群體的TMRCA、人口數(shù)量增長的起始時間、Ne以及人口增長率的估算,發(fā)現(xiàn)前三個人口學(xué)參數(shù)后驗(yàn)估計的大小順序?yàn)閞EMR＞EMR＞OMR,但人口增長率的大小順序與之相反。由于應(yīng)用rEMR對人口學(xué)參數(shù)的估計更接近于考古學(xué)上的估計(最可信的估計),且rEMR根據(jù)變異度將OMR和EMR進(jìn)行了很好的組合,因而我們最終采用了rEMR。 在人口學(xué)上,我們觀察到了一個普遍的模式:撒哈拉沙漠以南非洲人群的TMRCA最古老、Ne最大且人口數(shù)量增長的起始時間最早,而美洲人群的TMRCA最年輕、Ne最小且人口數(shù)量增長的起始時間最晚,其他大陸人群的這些參數(shù)介于二者之間,形成一個梯度。所有非洲以外人群的TMRCA、Ne及人口數(shù)量增長的起始時間與該人群居住地到東非間的步行距離呈顯著的負(fù)相關(guān),這與大多數(shù)關(guān)于人類遺傳變異及進(jìn)化史的研究結(jié)果相符;與之相反,人口增長率與距離的遠(yuǎn)近呈正相關(guān),但相關(guān)性很弱;Y染色體譜系中不同分支的多樣性及其TMRCA也隨著與東非之間距離的增加而降低。所有這些結(jié)果均支持“系列建立者模型”學(xué)說。同時,我們還發(fā)現(xiàn)了一些群體呈現(xiàn)特殊模式,以往的研究中也曾觀察到其中的某些特例:如非洲Yoruba人群、歐洲Basque人群和北亞Yakut人群,他們的人口數(shù)量增長的起始時間明顯晚于該地區(qū)的其他人群;但是本研究還發(fā)現(xiàn)了幾個其它特例群體,例如巴基斯坦Kalash和Hazara的人口增長率較低,北非Mozabite人口數(shù)量增長的起始時間很晚。 本研究利用遺傳學(xué)數(shù)據(jù),應(yīng)用遺傳統(tǒng)計學(xué)的策略提供了迄今為止最完整、最詳細(xì)的全球男性人口變遷歷史的信息。為了估測如此復(fù)雜的人類變遷過程,我們不得不簡化某些分析細(xì)節(jié),比如在BATWING模擬中,我們只假設(shè)每個人群的初始有效群體大小不變,經(jīng)過一段時間后開始指數(shù)擴(kuò)增,并未考慮更復(fù)雜的人口變化、群體之間的融合以及其他一些特殊的歷史事件。然而,本研究卻有力地闡明了人類變遷歷史中最關(guān)鍵的特征。無論是全球人口學(xué)變遷的宏觀模式,還是某些微觀特例,本研究的結(jié)論都與其他大多數(shù)遺傳學(xué)和非遺傳學(xué)研究的結(jié)果相吻合。同時,還有一小部分特殊群體為我們今后的研究提供了新的方向。
[Abstract]:There has been a dispute about the origin of modern human beings, but the vast majority of scholars now accept the "go out of Africa" theory that one hundred thousand years ago, modern people originated from a small population in Africa and gradually moved to many places outside Africa as the population grew, and in the past thirty years, genetics continued to infiltrate. On the basis of the study of human origin and the number of DNA molecular evidence supporting the "out of Africa" theory, some scholars have further proposed the "series builder model" theory: when a group of sub Saharan Africa reaches a certain population saturation, some of them will move away from their original origin. Another area in the place of residence establishes a new group, and when the population of the new population grows again to a higher saturation, second migration will occur, and the process is repeated until it reaches the most distant human settlement point on the earth - the American continent. The history of population changes in this process, such as the recent common ancestor age (TMRCA) of different regions of the world, the size of the effective population (Ne), the beginning of the population growth and the rate of population growth.
In this study, the BATWING program was used to systematically analyze 51 groups representing the vast majority of the world's modern population in the HGDP-CEPH (human genome diversity program - human genome diversity center) sample library, including 37 Y-SNPs and 65 Y-STRs genotype data.BATWING programs for men, based on the input genetic data and first. Prior, the Markov chain Monte Carlo algorithm based on abduction theory is used to simulate a series of (such as the one hundred thousand) pedigree tree (genealogical tree), at the same time, to calculate the demographic posterior parameter (posterior), that is, TMRCA, Ne, population growth and population growth rate that conforms to the structure of each pedigree. After equilibrium, a posteriori estimation of each parameter and its confidence interval can be obtained.
In methodology, this study first systematically analyzed the effects of different types (simple and complex) Y-STR, the number of Y-STR, the size of the sample size and the different STR mutation rates on the posterior distribution of demographic parameters. The results showed that: (1) different types of Y-STR had no effect on the estimation of demographic parameters. More STR was used. Relatively less application STR has a certain advantage to calculate a more accurate TMRCA, so in the analysis of the demographic parameters of different groups, all 65 Y-STR should be used; (2) the sample size of 4 individuals (the minimum sample size used in this study) can provide valuable value of the demographic information, do not need to eliminate or merge such (3) (3) three kinds of STR mutation rates (rEMR, EMR and OMR) were applied to the TMRCA of 51 populations, the initial time of population growth, Ne and the estimation of population growth rate, and the order of the first three oral parameters was found to be rEMR > EMR > OMR, but the order of the population growth rate was the opposite. The application of rEMR to people was the opposite. The estimation of the oral parameters is closer to the archaeological estimate (the most credible estimate), and rEMR makes a good combination of OMR and EMR based on the variation, so we finally use the rEMR.
In demographics, we have observed a universal model: the oldest TMRCA in the sub Saharan African population, the earliest beginning of the largest and population growth of Ne, and the youngest population of the Americas, the smallest Ne and the earliest population growth, and these parameters between the other continent population are between two. A gradient. The start time of TMRCA, Ne and population growth of all people outside Africa was significantly negatively correlated with the walking distance between the population and the East Africa, which was in line with most studies on human genetic variation and evolutionary history; in contrast, the growth rate of human mouth was positively related to distance distance, but related to the distance. The diversity of the different branches of the Y chromosome lineage and its TMRCA also decreased with the increase of the distance from East Africa. All these results support the "series builder model" theory. At the same time, we also found that some groups present special patterns, and some special cases in previous studies, such as African Yorub, have also been observed. The population growth of the a population, the European Basque population and the North Asian Yakut population was significantly later than the rest of the population in the region, but the study also found that several other special groups, such as the Pakistan Kalash and Hazara, had a lower population growth rate and a late start of the population growth of the North African Mozabite population.
This study uses genetic data and the strategy of applying genetic statistics to provide the most complete and detailed information about the history of global male population change so far. In order to estimate such a complex process of human change, we have to simplify some of the detailed analysis, for example, in the BATWING simulation, we only assume the initial effectiveness of each group. The size of the population is constant, and the exponential expansion after a period of time does not take into account more complex demographic changes, group integration and other special historical events. However, this study forcefully illustrates the most critical characteristics in the history of human changes. In particular, the findings of this study are consistent with the results of most other genetic and non genetic studies. At the same time, a small number of special groups provide a new direction for our future research.
【學(xué)位授予單位】：中國協(xié)和醫(yī)科大學(xué)
【學(xué)位級別】：博士
【學(xué)位授予年份】：2009
【分類號】：R394

【共引文獻(xiàn)】

相關(guān)期刊論文 前10條

1 楊曉霞,楊智麗,石宏,高路,董永利,肖春杰;納西族Y-STR遺傳多態(tài)性研究[J];大理學(xué)院學(xué)報(自然科學(xué));2005年03期

2 宋興勃;范紅;應(yīng)斌武;陸小軍;王軍;葉遠(yuǎn)馨;;成都地區(qū)漢族人群17個Y短串聯(lián)重復(fù)序列基因座遺傳多態(tài)性分析[J];南方醫(yī)科大學(xué)學(xué)報;2009年10期

3 王永在,張更謙,王艷,張艷霞,，

本文編號：2060794