Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles.: An article from: Human Biology
Book Details
Author(s)Gerard Lucotte, Serge Hazout
PublisherWayne State University Press
ISBN / ASINB00093MH1I
ISBN-13978B00093MH19
AvailabilityAvailable for download now
MarketplaceUnited States 🇺🇸
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This digital document is an article from Human Biology, published by Wayne State University Press on August 1, 1995. The length of the article is 3818 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: Examination of the European geographic patterns of the 10 relatively most frequent cystic fibrosis mutations, other than the DF508 one, shows that a founder effect is apparent for a number of them. The most evident examples are for the W1282X mutation in Jews, with a probable Asian origin, and the G551D and R117H mutations in Celts. Geographic distributions indicate that the main focus of the 621 + I G [right arrow] T and DI507 mutations is probably located in Wales. Also, the R1162X mutation probably originates from a circumscribed north Italian region. The N1303K mutation has a wide range in Europe with a clear preponderance in southern countries. Even the relatively common G542X and 1717.1 G [right arrow] A mutations have a local preponderance in Spain and Sicily and in northern Italy, respectively. Likelihood estimates for recurrent mutation and identity by descent strongly support the hypothesis of recurrence for the (mainly German) mutation R553X.
Citation Details
Title: Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles.
Author: Gerard Lucotte
Publication:Human Biology (Refereed)
Date: August 1, 1995
Publisher: Wayne State University Press
Volume: v67 Issue: n4 Page: p561(16)
Distributed by Thomson Gale
From the author: Examination of the European geographic patterns of the 10 relatively most frequent cystic fibrosis mutations, other than the DF508 one, shows that a founder effect is apparent for a number of them. The most evident examples are for the W1282X mutation in Jews, with a probable Asian origin, and the G551D and R117H mutations in Celts. Geographic distributions indicate that the main focus of the 621 + I G [right arrow] T and DI507 mutations is probably located in Wales. Also, the R1162X mutation probably originates from a circumscribed north Italian region. The N1303K mutation has a wide range in Europe with a clear preponderance in southern countries. Even the relatively common G542X and 1717.1 G [right arrow] A mutations have a local preponderance in Spain and Sicily and in northern Italy, respectively. Likelihood estimates for recurrent mutation and identity by descent strongly support the hypothesis of recurrence for the (mainly German) mutation R553X.
Citation Details
Title: Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles.
Author: Gerard Lucotte
Publication:Human Biology (Refereed)
Date: August 1, 1995
Publisher: Wayne State University Press
Volume: v67 Issue: n4 Page: p561(16)
Distributed by Thomson Gale
