2021年经济学人 基因一小步,世界一大步(3)（在线收听）

Bias also means that little is known about how variations elsewhere in the genome modify conditions. With sickle-cell disease, red blood cells look like bananas rather than, as is normal, round cushions. About 75% of the 300,000 babies born every year with sickle-cell disease are African. The high share reflects a bittersweet twist in the evolutionary tale; sickle-cell genes can confer a degree of protection against malaria. Other mutations are known to lessen sickle-cell’s impact, but most knowledge of genetic modifiers is particular to Europeans.

测序偏差也意味着对人们对基因组变异在其他地方如何改变健康状况知之甚少。镰状细胞病患者的红细胞看起来像香蕉，而不像正常的圆形垫子。每年有30万患有镰状细胞病的婴儿出生，其中大约75%是非洲人。较高的患病比例反映了进化中的苦乐参半；镰状细胞基因可以在一定对程度防御疟疾。其他的基因突变则可以减轻镰状细胞的影响，但是大多数了解的遗传修饰因子只适用于欧洲人。

Quicker and more accurate diagnosis would mean better treatment. The sooner parents know their children are deaf, the sooner they can begin sign language. Algorithms that incorporate genetic information, such as one for measuring doses of warfarin, a blood-thinner, are often inappropriately calibrated for Africans.

更快速准确的诊断意味着更好的治疗。父母越早知道自己的孩子失聪，他们就能越早开始学习手语。包含遗传信息的算法往往不适合非洲人，比如用于测量血液稀释剂华法林剂量的算法。

Knowing more about Africans’ genomes will benefit the whole world. The continent’s genetic diversity makes it easier to find rare causes of common diseases. Last year researchers investigating schizophrenia sequenced the genomes of about 900 Xhosas (a South African ethnic group) with the psychiatric disorder. They found some of the same mutations that a team had discovered in Swedes four years earlier. But those researchers had to analyse four times as many of the homogeneous Scandinavians to find it. Research by Olufunmilayo Olopade, a Nigerian-born oncologist, into why breast cancer is relatively common in Nigerian women, has revealed broad insights into tumour growth.

更多地了解非洲人的基因组将使全世界受益。非洲大陆的遗传多样性使得找到常见疾病的罕见病因变得更为容易。去年，研究精神分裂症的研究人员对大约900名患有精神疾病的科萨人（南非种族）进行了基因组测序。他们发现了四年前瑞典研究团队发现的一些相同的突变。但是这些研究人员必须分析斯堪的纳维亚患者人数的四倍才能找到它。出生于尼日利亚的肿瘤学家奥卢芬米拉约·奥洛帕德对乳腺癌在尼日利亚女性中相对常见的原因进行了研究，并揭示了对肿瘤生长的广泛见解。