Annual Report 2010–11

24 城，成功從孕婦血漿中的胎兒 DNA 拼湊 出胎兒的基因圖譜。他們抽取了一名母親 的血漿樣本，完成近四十億個 DNA 分子 的排序，約相當於人類基因組的六十五 倍。接着拼湊出胎兒分別遺傳自父親和 母親的兩組基因圖譜，再把這兩組基因 圖譜結合，從而得出胎兒的基因圖譜。 有了這項技術，只需分析孕婦的一個血 液樣本，就能追溯出胎兒的整個基因組， 而且單次檢測即能一舉診斷出多種遺傳 病，是產前診斷的重大突破。 2010 年 12 月 8 日號的生物醫學權威期刊 《科學 ‧ 轉譯醫學》以封面故事形式發 表這項發現。盧煜明教授亦因他的出色 研究和貢獻，在 2011 年 7 月獲英國皇家學 會頒授院士銜。 However, so far these non-invasive tests have been limited to screening one disease (e.g., Down syndrome) at a time. In 2010, he and his team made a breakthrough by deciphering the genomic map of the foetus using maternal blood. The team sequenced nearly four billion DNA fragments from a maternal blood sample, which was equivalent to some 65-fold coverage of the human genome. They then constructed separate genetic maps that the foetus had inherited from the father and from the mother. By combining the paternally-inherited and maternally-inherited genetic maps, CUHK researchers were able to arrive at a genomic map of the foetus. The implication of this ground-breaking research is that by analysing a blood sample from the pregnant woman the entire genome of the foetus can be deduced and screened for many possible genetic disorders in one go. Their findings were published as the cover story in the 8 December 2010 issue of Science Translational Medicine , a prestigious interdisciplinary biomedical journal. Professor Lo’s remarkable research and contributions to medicine earned him a fellowship of the Royal Society in July 2011. 盧煜明教授解釋拼湊胎兒的基因圖譜的棘手 處：「母體血漿內含有大量孕婦本身的DNA 分子，胎兒的DNA分子只佔十分之一，而且 非常零碎，就像這茫茫DNA海洋中的一粟。 要從這些散落的碎片拼湊出胎兒的基因圖 譜，難度不下於完成一個百萬片的拼圖。而 且更好比先摻入另一幅拼圖的千萬片小塊， 然後才開始拼合原先的第一幅拼圖。」 The task of developing a non-invasive foetal genome scan was highly challenging. Prof. Dennis Y.M. Lo explained, ‘Foetal DNA molecules, which account for only about 10% of the DNA in the maternal plasma, are highly fragmented. Constructing the foetus’s genetic profile from these fragments would be tantamount to assembling a million-piece jigsaw puzzle. To make matters worse, these foetal DNA molecules in the mother’s blood plasma are drifting in an ocean of maternal DNA molecules. This is like adding in tens of millions of pieces from another jigsaw puzzle and then trying to re-assemble the first one.’