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Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country.

Abstract：

:Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in white populations. Significant regional differences in CF mutations among affected individuals have been reported. We have studied the geographic distribution of the relative frequencies of the three most common Dutch CF mutations, deltaF508, A455E, and G542X, by analyzing data on area of residence of CF patients. Significantly higher relative frequencies of the A455E mutation and the G542X mutation were observed in the South-West and the South-East, respectively. A uniform distribution of relative frequencies was found for the deltaF508 mutation. The results of our study show that, even in a small country such as The Netherlands, certain CF mutations may be more common in one region than in another.

journal_name

Hum Genet

journal_title

Human genetics

authors

Collée JM,de Vries HG,Scheffer H,Halley DJ,ten Kate LP

doi

10.1007/s004390050745

subject

Has Abstract

pub_date

1998-05-01 00:00:00

pages

587-90

issue

5

eissn

0340-6717

issn

1432-1203

journal_volume

102

pub_type

杂志文章

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