科学家揭示乳糖不耐受的基因基础

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讽刺的是,我们生命早期赖以获取营养的物质,在成年后食用时却会引发不适症状。仅在北美,乳糖不耐受症——即无法消化牛奶中的主要糖分——就影响了超过三千万成年人,其中大部分是非洲或亚洲血统。另一方面,北欧人往往保留了分解乳糖的能力。然而,编码乳糖酶(负责处理乳糖的酶)的基因在乳糖耐受人群和乳糖不耐受人群之间似乎没有差异——这一观察结果引起了科学界的广泛困惑。

现在,发表在《自然·遗传学》杂志二月刊上的一项新研究,终于揭示了长期以来寻求的乳糖不耐受的基因基础。这些发现可能加速该疾病可靠诊断测试的开发。


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通过研究九个芬兰大家庭的DNA,加州大学洛杉矶分校的莱娜·佩尔托宁及其同事发现了位于乳糖酶基因之外的两种DNA变异,这两种变异分别与乳糖耐受和乳糖不耐受有关。重要的是,芬兰家庭中乳糖不耐受的成员与来自德国、意大利和韩国等地的乳糖不耐受个体共享相同的DNA变异,这向研究人员表明乳糖不耐受具有古老的根源。他们说,事实上,持续的乳糖酶活性可能只是在约一万年前随着奶牛养殖业的出现而进化出来的。

Kate Wong is an award-winning science writer and senior editor at 大众科学 focused on evolution, ecology, anthropology, archaeology, paleontology and animal behavior. She is fascinated by human origins, which she has covered for more than 25 years. Recently she has become obsessed with birds. Her reporting has taken her to caves in France and Croatia that Neandertals once called home, to the shores of Kenya's Lake Turkana in search of the oldest stone tools in the world, to Madagascar on an expedition to unearth ancient mammals and dinosaurs, to the icy waters of Antarctica, where humpback whales feast on krill, and on a "Big Day" race around the state of Connecticut to find as many bird species as possible in 24 hours. Kate is co-author, with Donald Johanson, of Lucy's Legacy: The Quest for Human Origins. She holds a bachelor of science degree in biological anthropology and zoology from the University of Michigan. Follow Wong on X (formerly Twitter) @katewong

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