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Middle East & Africa
中東&非洲板塊
Science
科學
The African genome project
非洲基因組計劃
A Cameroonian professor plans to fill a gaping hole in humanity’s understanding of its own genetics
一位喀麥隆教授計劃填補人類對自身基因認識上的一大片空洞
When the Mutambaras’ first son was a about 18 months old they began to worry about his hearing. The toddler did not respond when asked to “come to Mama”. He was soon diagnosed as deaf, though no doctor could tell the Zimbabwean couple the cause. Several years later their second son was also born deaf.
當穆坦巴拉斯的第一個兒子18個月大的時候，他們開始擔心他的聽覺。這個蹣跚學步的孩子在被要求“來找媽媽”時沒有回應。他很快被診斷為耳聾，不過沒有醫生能告訴這對津巴布韋夫婦原因。幾年后，他們的第二個兒子也天生耳聾。
This time a doctor referred them to Hearing Impairment Genetics Studies in Africa (HI-GENES), set up in 2018 by Ambroise Wonkam, a Cameroonian professor of genetics now at the University of Cape Town. The project is sequencing the genomes of Africans with hearing loss in seven countries to learn why six babies in every 1,000 are born deaf in Africa, a rate six times that in America. In Cape Town, where Mr and Mrs Mutambara (not their real names) live, a counsellor explained that the boys’ deafness is caused by genetic variants rarely found outside Africa.
這一次，一位醫生向他們提到了非洲聽力障礙遺傳學研究（HI-GENES），該研究是由現任開普頓大學喀麥隆遺傳學教授安布羅伊斯·旺坎于2018成立的。該項目正在對7個國家的失聰非洲人的基因組進行測序，以了解為什么非洲每1000個嬰兒中就有6個先天失聰，比率是美國的6倍。在穆坦巴拉夫婦（化名）居住的開普敦，一位顧問解釋說，這兩個男孩的耳聾是由基因變異引起的，這種變異在非洲以外地區非常罕見。
What is true of deafness is true of other conditions. The 3bn pairs of nucleotide bases that make up human DNA were first fully mapped in 2003 by the Human Genome Project. Since then scientists have made publicly available the sequencing of around 1m genomes as part of an effort to refine the “reference genome”, a blueprint used by researchers. But less than 2% of all sequenced genomes are African, though Africans are 17% of the world’s population. “We must fill the gap,” argues Dr Wonkam, who has proposed an initiative to do just that—Three Million African Genomes (3MAG).
耳聾的真相也是其他情況的真相。人類基因組計劃在2003年首次對人類DNA中包含的30億個堿基對組成的核苷酸序列進行了完全繪制。從那時起，科學家們公開了大約100萬個基因組的測序，作為完善“參考基因組”（研究人員使用的藍圖）努力的一部分。盡管非洲人占世界人口的17%，但所有測序的基因組中只有不到2%是非洲人。旺坎博士說，“我們必須填補這一空白，”他提出了一項對300萬個非洲基因組(3MAG)進行繪制的計劃。
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