評論
打印
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.
測序偏差也意味著對人們對基因組變異在其他地方如何改變健康狀況知之甚少。鐮狀細胞病患者的紅細胞看起來像香蕉，而不像正常的圓形墊子。每年有30萬患有鐮狀細胞病的嬰兒出生，其中大約75%是非洲人。較高的患病比例反映了進化中的苦樂參半；鐮狀細胞基因可以在一定對程度防御瘧疾。其他的基因突變則可以減輕鐮狀細胞的影響，但是大多數了解的遺傳修飾因子只適用于歐洲人。
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.
更快速準確的診斷意味著更好的治療。父母越早知道自己的孩子失聰，他們就能越早開始學習手語。包含遺傳信息的算法往往不適合非洲人，比如用于測量血液稀釋劑華法林劑量的算法。
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組將使全世界受益。非洲大陸的遺傳多樣性使得找到常見疾病的罕見病因變得更為容易。去年，研究精神分裂癥的研究人員對大約900名患有精神疾病的科薩人（南非種族）進行了基因組測序。他們發現了四年前瑞典研究團隊發現的一些相同的突變。但是這些研究人員必須分析斯堪的納維亞患者人數的四倍才能找到它。出生于尼日利亞的腫瘤學家奧盧芬米拉約·奧洛帕德對乳腺癌在尼日利亞女性中相對常見的原因進行了研究，并揭示了對腫瘤生長的廣泛見解。
譯文由可可原創，僅供學習交流使用，未經許可請勿轉載。
