2021年经济学人 基因一小步,世界一大步(1)（在线收听）

Middle East & Africa

中东&非洲板块

Science

科学

The African genome project

非洲基因组计划

A Cameroonian professor plans to fill a gaping hole in humanity’s understanding of its own genetics

一位喀麦隆教授计划填补人类对自身基因认识上的一大片空洞

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.

当穆坦巴拉斯的第一个儿子18个月大的时候，他们开始担心他的听觉。这个蹒跚学步的孩子在被要求“来找妈妈”时没有回应。他很快被诊断为耳聋，不过没有医生能告诉这对津巴布韦夫妇原因。几年后，他们的第二个儿子也天生耳聋。

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.

这一次，一位医生向他们提到了非洲听力障碍遗传学研究（HI-GENES），该研究是由现任开普顿大学喀麦隆遗传学教授安布罗伊斯·旺坎于2018成立的。该项目正在对7个国家的失聪非洲人的基因组进行测序，以了解为什么非洲每1000个婴儿中就有6个先天失聪，比率是美国的6倍。在穆坦巴拉夫妇（化名）居住的开普敦，一位顾问解释说，这两个男孩的耳聋是由基因变异引起的，这种变异在非洲以外地区非常罕见。

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).

耳聋的真相也是其他情况的真相。人类基因组计划在2003年首次对人类DNA中包含的30亿个碱基对组成的核苷酸序列进行了完全绘制。从那时起，科学家们公开了大约100万个基因组的测序，作为完善“参考基因组”（研究人员使用的蓝图）努力的一部分。尽管非洲人占世界人口的17%，但所有测序的基因组中只有不到2%是非洲人。旺坎博士说，“我们必须填补这一空白，”他提出了一项对300万个非洲基因组(3MAG)进行绘制的计划。