Southwestern Athabaskan (Navajo and Apache) genetic diseases.

Genet Med

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

Published: April 2001

AI Article Synopsis

  • Four unique genetic disorders—Athabaskan severe combined immunodeficiency, Navajo neuropathy, Navajo poikiloderma, and Athabaskan brainstem dysgenesis—affect the Southwestern Athabaskan Amerindians, including Navajo and Apache tribes.
  • The study reviews clinical findings and epidemiological data regarding these recessive disorders to highlight their impact on the affected populations.
  • It emphasizes the need for increased awareness among Native Americans, especially as more individuals leave Reservations, regarding their susceptibility to specific genetic diseases due to past genetic bottlenecks.

Article Abstract

Purpose: 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.

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

Results: 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.

Conclusion: 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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Source
http://dx.doi.org/10.1097/00125817-199905000-00007DOI Listing

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