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The evolutionary line leading to Homo sapiens diverged 5m-6m years ago from that leading to chimpanzees, and for almost all that time the ancestors of modern humans lived in Africa.
在500萬至600萬年前，智人的進化路線與黑猩猩的進化路線分道而行，而且現代人類的祖先幾乎一直都生活在非洲。
Only about 60,000 years ago did Homo sapiens venture widely beyond the continent, in small bands of adventurers. Most of humanity’s genetic diversity, undersampled though it is, is therefore found in Africa. Unfortunately, that diversity is also reflected in the greater variety of genetic illnesses found there.
僅僅在大約60000年前，組成冒險家小群體的智人冒險遠涉非洲大陸以外的地方。因此，盡管樣本不足，但大多數人類遺傳多樣性都能在非洲發現。不幸的是，這種多樣性也反映在非洲發現的更多種類的遺傳病上。
The bias in sequencing leads to underdiagnosis of diseases in people of (relatively recent) African descent. Genetic causes of heart failure, such as the one that caused the ultimately fatal collapse of Marc-Vivien Foé, a Cameroonian football player, during a game in 2003, are poorly understood. The variation present in most non-Africans with cystic fibrosis is responsible for only about 30% of cases in people of African origin. This is one reason, along with its relative rarity, that the illness is often missed in black children. Standard genetic tests for hearing loss would not have picked up the Mutambara boys’ variations. And such is the diversity within the continent that tests in some countries would be irrelevant in others. In Ghana HI-GENES found one mutation responsible for 40% of inherited deafness. The same variation has not been found in South Africa.
測序的偏差導致對（相對較新的）非洲人后裔疾病的診斷不足。人們對心臟衰竭的遺傳原因了解甚少，比如最終導致喀麥隆足球運動員馬克-維維安·福在2003年的一場比賽中心力衰竭而死的原因尚不可知。基因突變引起的囊性纖維化是大多數非非洲人心力衰竭的原因，因這一遺傳原因發病的非洲人只有30%。這是黑人兒童很少患有該病的原因之一，另一個原因則是它相對罕見。對聽力損失的標準基因測試無法檢測出穆坦巴拉家兩個男孩的變異。非洲大陸的遺傳疾病多樣性使得一些國家的測試在其他國家無關緊要。在加納，HI-GENES發現了一個導致40%的遺傳性耳聾的突變。但南非沒有發現同樣的變異。
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