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Genet Med. 1999 May-Jun;1(4):151-7.

Southwestern Athabaskan (Navajo and Apache) genetic diseases.

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Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA.



Four apparently unique disorders are known among the Southwestern Athabasan Amerindians, i.e., the Navajo and Apache; they are Athabaskan severe combined immunodeficiency, Navajo neuropathy, Navajo poikiloderma, and Athabaskan brainstem dysgenesis. This study reviews background information on Athabaskan groups and clinical descriptions of these recessive disorders.


The major clinical findings of these four disorders are reviewed. In addition, the findings of epidemiological surveys are included where available.


Although the importance of genetic bottlenecks in increasing the frequency of rare, sometimes unique, autosomal recessive disorders is known for a number of populations, similar phenomena among Native Americans seem to be less well known.


As many more Native Americans move off the Reservation, the awareness of susceptibility to particular genetic diseases needs to be more widely disseminated.

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