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This digital document is an article from Human Biology, published by Wayne State University Press on December 1, 1998. The length of the article is 4919 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.
From the author: Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset. In the islands of the Azores (Portugal), MJD reaches the highest prevalence reported worldwide. It has been postulated that it is highly represented in the Azorean population as a result of a founder effect. To test this hypothesis, we reconstructed the ascending genealogies of the 32 Azorean families presently identified as harboring the disease (103 patients), using parish records as the main source of data. These patients were originally from the islands of Sao Miguel, Terceira, Graciosa, and Flores. The genealogies of the two main Azorean American families (Machado and Joseph) were also reconstructed. To identify the links between the MJD families, we calculated the kinship coefficient between the proponents of these genealogies. The family from Terceira was linked to three different MJD families from Flores through common ancestors. No kinship was observed between the MJD families from Silo Miguel and families from any other island. Links between the two Azorean American families and Azorean MJD families were found. The founders present in more than one ascendance were identified. Their chronological and geographic distribution indicates that more than one MJD mutation was introduced in the Azores, probably by settlers coming from the Portuguese mainland. The molecular evidence to date corroborates these results, because two distinct haplotypes have been established, one on the island of Sao Miguel and the other on Flores. Therefore molecular biology studies confirm the accuracy of the conclusions drawn from the genealogical evidence supporting the absence of a founder effect for MJD in the Azorean population.
Citation Details
Title: Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).
Author: Manuela Lima
Publication: Human Biology (Refereed)
Date: December 1, 1998
Publisher: Wayne State University Press
Volume: 70 Issue: 6 Page: 1011(1)
Distributed by Thomson Gale
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