The peopling of the Americas by Native Americans occurred in 4 waves of which the last was Nadene language speakers of whom Athabaskans are the largest group. As the Europeans were entering the Southwestern states of the USA, Athabaskan hunting-gathering tribes were migrating South from Canada along the Rocky Mountains and undergoing potential bottlenecks reflected in autosomal recessive diseases shared by Apaches and Navajos. About 300 years ago, the Navajo developing a sedentary culture learned from Pueblo Indians while the Apache remained hunter-gathers. Although most of the tribe was rounded up and forced to relocate to Bosque Redondo, the adult breeding population was large enough to prevent a genetic bottleneck. However, some Navajo underwent further population bottlenecks while hiding from the brutal US Army action (under Kit Carson’s guidance). This led to an increased frequency of other autosomal recessive diseases. Recent advances in population genetics, pathophysiology of the diseases, and social/ethical issues concerning their study are reviewed.

美洲原住民在美洲的人口发生在 4 次浪潮中，其中最后一次是 Nadene 语言使用者，其中 Athabaskans 人是最大的群体。当欧洲人进入美国西南部各州时，阿萨巴斯坎狩猎采集部落正沿着落基山脉从加拿大向南迁移，并经历了阿帕奇人和纳瓦霍人共有的常染色体隐性遗传病所反映的潜在瓶颈。大约 300 年前，纳瓦霍人从普韦布洛印第安人那里学到了一种久坐文化，而阿帕奇人仍然是狩猎采集者。尽管大部分部落都被围捕并被迫搬迁到博斯克雷东多，但成年繁殖种群数量足以防止遗传瓶颈。然而，一些纳瓦霍人在躲避残酷的美国陆军行动（在基特卡森的指导下）时经历了进一步的人口瓶颈。这导致其他常染色体隐性遗传病的发病率增加。回顾了人口遗传学、疾病的病理生理学以及与其研究有关的社会/伦理问题的最新进展。