Research into Population Genetics
While not exactly a top selling book, The History and Geography of Human Genes is a remarkable collection of more than 50 years of research in population genetics. It stands as the most extensive survey to date on how humans vary at the level of their genes. The book's firm conclusion: once the genes for surface features such as skin color and height are discounted, the "races" are remarkably alike under the skin. The variation among individuals is much greater than the differences among groups. In fact, there is no scientific basis for theories pushing the genetic superiority of any one population over another.
The book, however, is much more than an argument against the latest racially biased theory. The prime mover behind the project, Luca Cavalli-Sforza, a Stanford professor, labored with his colleagues for 16 years to create nothing less than the first genetic map of the world. The book features more than 500 maps that show areas of genetic similarity — much as places of equal altitude are shown by the same color on other maps. By measuring how closely current populations are related, the authors trace the routes by which early humans migrated around the earth. Result: the closest thing we have to a global family tree.
The information needed to draw that tree is found in human blood: various proteins that serve as markers to reveal a person's genetic makeup. Using data collected by scientists over decades, the authors assembled profiles of hundreds of thousands of individuals from almost 2,000 groups. And to ensure the populations were "pure", the study was confined to groups that were in their present locations as of 1492, before the first major movements from Europe began — in effect, a genetic photo of the world when Columbus sailed for America.
Collecting blood, particularly from ancient populations in remote areas, was not always easy; potential donors were often afraid to cooperate, or raised religious concerns. On one occasion, when Cavalli-Sforza was taking blood samples from children in a rural region of Africa, he was confronted by an angry farmer waving an axe. Recalls the scientist: "I remember him saying, ’If you take the blood of the children, I'll take yours.’ He was worried that we might want to do some magic with the blood."
Despite the difficulties, the scientists made some remarkable discoveries. One of them jumps right off the book's cover: a color map of the world's genetic variation has Africa at one end of the range and Australia at the other. Because Australia's native people and black Africans share such superficial characteristics as skin color and body shape, they were widely assumed to be closely related. But their genes tell a different story. Of all humans, Australians are most distant from the Africans and most closely resemble their neighbors, the Southeast Asians. What the eye sees as racial differences — between Europeans and Africans, for example — are mainly a way to adapt to climate as humans move from one continent to another.
The same map, in combination with ancient human bones, confirms that Africa was the birthplace of humanity and thus the starting point of the original human movements. Those findings, plus the great genetic distance between present-day Africans and non-Africans, indicate that the split from the African branch is the oldest on the human family tree.
The genetic maps also shed new light on the origins of populations that have long puzzled scientists. Example: the Khoisan people of southern Africa. Many scientists consider the Khoisan a distinct race of very ancient origin. The unique character of the clicking sounds in their language has persuaded some researchers that the Khoisan people are directly descended from the most primitive human ancestors. But their genes beg to differ. They show that the Khoisan may be a very ancient mix of west Asians and black Africans. A genetic trail visible on the maps shows that the breeding ground for this mixed population probably lies in Ethiopia or the Middle East.
The most distinctive members of the European branch of the human tree are the Basques of France and Spain. They show unusual patterns for several genes, including the highest rate of a rare blood type. Their language is of unknown origin and cannot be placed within any standard classification. And the fact that they live in a region next to famous caves which contain vivid paintings from Europe's early humans, leads Cavalli-Sforza to the following conclusion: "The Basques are extremely likely to be the most direct relatives of the Cro-Magnon people, among the first modern humans in Europe." All Europeans are thought to be a mixed population, with 65% Asian and 35% African genes.
In addition to telling us about our origins, genetic information is also the latest raw material of the medical industry, which hopes to use human DNA to build specialized proteins that may have some value as disease-fighting drugs. Activists for native populations fear that the scientists could exploit these peoples: genetic material taken from blood samples could be used for commercial purposes without adequate payment made to the groups that provide the DNA.
Cavalli-Sforza stresses that his mission is not just scientific but social as well. The study's ultimate aim, he says, is to "weaken conventional notions of race" that cause racial prejudice. It is a goal that he hopes will be welcomed among native peoples who have long struggled for the same end.
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對(duì)人種遺傳學(xué)的研究
盡管不完全是暢銷書,《人類基因的發(fā)展與地理分布》是一本匯集了50多年來人種遺傳學(xué)方面的研究成果的好書。 它對(duì)人類在基因?qū)用嫔系牟町愖髁似駷橹棺顬閺V泛的調(diào)查,得出了明確的結(jié)論: 如果不考慮諸如影響膚色、身高等外部特征的基因,不同的"種族"在外表之下令人吃驚地相似。 個(gè)體之間的差異大于群體之間的差異。 實(shí)際上,那種認(rèn)為某一種群比另一種群的基因更優(yōu)越的理論是毫無科學(xué)根據(jù)的。
然而,此書還不僅僅是對(duì)目前的種族偏見理論的反駁。 這一項(xiàng)目的主要倡導(dǎo)者,斯坦福大學(xué)教授路卡·卡瓦里-斯福爾扎與同事一起經(jīng)過16年的努力,成就了這一相當(dāng)于世界上首本人類基因分布圖譜的書。 此書的一大特點(diǎn)是提供了500多幅圖,顯示相同的遺傳基因所處的區(qū)域。這很像其他地圖上用同樣的顏色表示同樣海拔高度的地區(qū)。 通過測(cè)定當(dāng)前人類種群間的親緣關(guān)系,作者們弄清了地球上早期人類遷移的路線。 他們的工作結(jié)果相當(dāng)于一份全球家譜。
他們?cè)谌祟愌褐姓业搅死L制這一家譜所需的信息: 不同的蛋白質(zhì)就是顯示一個(gè)人的基因構(gòu)造的標(biāo)志。 作者們用幾十年來科學(xué)家們收集的數(shù)據(jù),匯編成了2,000多個(gè)群體中成千上萬個(gè)個(gè)體的數(shù)據(jù)圖。 為了確保種群的"純正",這項(xiàng)研究將對(duì)象限定于其目前的生活區(qū)域仍與1492年以來相同的那些群體,即在來自歐洲最初的大規(guī)模遷移之前。這實(shí)際上就是一幅真實(shí)的哥倫布駛向美洲時(shí)期的世界人口基因分布圖。
收集血樣,特別是到偏遠(yuǎn)地區(qū)的古老人種中去收集,并非總是易事。 可能的供血者通常不敢合作,或產(chǎn)生宗教上的擔(dān)心。 有一次在非洲鄉(xiāng)下,正當(dāng)卡瓦里-斯福爾扎要從兒童身上采血時(shí),一個(gè)憤怒的農(nóng)人手執(zhí)斧頭出現(xiàn)在他面前。 這位科學(xué)家回憶道:"我記得他說,‘如果你從孩子們身上抽血,我就要放你的血。’ 那人是擔(dān)心我們可能用這些血來施魔法。"
盡管碰到了困難,科學(xué)家們還是有了一些引人注目的發(fā)現(xiàn)。 其中之一就醒目地印在此書封面上: 人類基因變異彩圖表明非洲與澳洲分別位于變化范圍的兩端。 因?yàn)榘闹尥林头侵藓谌酥g有一些共同的外表特征,如膚色、體型等,所以普遍認(rèn)為他們有較近的親緣關(guān)系。 但是他們的基因卻表明并非如此。 在所有人種中,澳洲人與非洲人的關(guān)系最遠(yuǎn),而與其鄰居?xùn)|南亞人非常接近。 我們眼中看到的人種差異,例如歐洲人與非洲人的差異,主要是人類從一個(gè)大陸向另一個(gè)大陸遷移時(shí)為適應(yīng)氣候所產(chǎn)生的。
結(jié)合對(duì)遠(yuǎn)古人骨的研究,這一圖譜證實(shí)了非洲是人類的誕生地,因而也是人類遷移的始發(fā)地。 這些發(fā)現(xiàn),再加上現(xiàn)代非洲人與非非洲人之間的巨大基因差距,說明了從非洲人種群開始的分支是人類家譜上最早的分支。
這一基因分布圖譜對(duì)長(zhǎng)期以來困繞著科學(xué)家的人種起源問題也做出了新的解釋。 南部非洲的科伊桑人就是一個(gè)例子。 很多科學(xué)家認(rèn)為科伊桑人是一個(gè)獨(dú)立的非常古老的人種。 他們語言中那種獨(dú)特的短促而清脆的聲音使得一些研究者認(rèn)為科伊桑人是最原始的人類祖先的直系后裔。 然而他們的基因說明了不同的結(jié)果。 基因研究表明科伊桑人可能是古代西亞人與非洲黑人的混血, 圖譜上顯示的遺傳軌跡表明這一混血人種的發(fā)生地可能就在埃塞俄比亞或中東地區(qū)。
人類家譜圖上歐洲人分支的非常特殊的成員就是法國(guó)和西班牙的巴斯克人。 他們有幾組少見的基因型,包括一種罕見血型的發(fā)生率在巴斯克人中也是最高的。 他們的語言起源不明,也無法根據(jù)任何通常分類來歸類。 他們居住的地區(qū)緊挨著發(fā)現(xiàn)早期歐洲人壁畫的幾個(gè)著名的洞穴的事實(shí)使卡瓦里-斯福爾扎得出這樣的結(jié)論:" 在歐洲最早的近代人中,巴斯克人極有可能與克羅馬努人關(guān)系最直接。 "人們認(rèn)為所有的歐洲人都是混合人種,有65%的亞洲人基因,35%的非洲人基因。
除了揭示人種的起源以外,基因信息也是醫(yī)學(xué)界可用的最新原料。 醫(yī)學(xué)界希望能用人類脫氧核糖核酸(DNA)制成特別的蛋白質(zhì),這些蛋白質(zhì)具有某種抗病藥物的價(jià)值。 保護(hù)土著人權(quán)益活動(dòng)家們擔(dān)心科學(xué)家可能會(huì)利用土著人謀利: 從當(dāng)?shù)厝搜獦又刑崛〉幕蛭镔|(zhì)可被用于商業(yè)目的,卻不給DNA提供者以足夠的報(bào)酬。
卡瓦里-斯福爾扎強(qiáng)調(diào)他的工作不僅有科學(xué)意義,而且也有社會(huì)意義。 他說研究的最終目的是"削弱"造成種族偏見的"傳統(tǒng)的種族觀念"。 他希望這一目的會(huì)得到土著民族的接受。長(zhǎng)期以來,他們一直在為同樣的目的進(jìn)行抗?fàn)帯?/p>