Distribution patterns of the ΔF508 mutation in the CFTR gene on CF-linked marker haplotypes in the German population.

Autor: Reis, André, Bremer, Silvia, Schlösser, Manfred, Dueck, Margarete, Böhm, Ingolf, Hundrieser, Joachim, Macek, Milan, Stuhrmann, Manfred, Wagners, Michael, Dörk, Thilo, Schnieders, Frank, Posselt, Hans-Georg, Wahn, Ulrich, Reisse, Jochen, Trefz, Friedrich, Tümmler, Burkhard, Krawczak, Michael, Schmidtke, Jörg
Zdroj: Human Genetics; 1990, Vol. 85 Issue 4, p421-422, 2p
Abstrakt: We have measured the frequency of the ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its association with cystic fibrosis (CF)-linked marker haplotypes in the German population. Based on the analysis of 400 CF chromosomes, the frequency of the ΔF508 mutation is estimated to be 77.3%, the vast majority being associated with marker haplotype KM19-XV2c 2 1. Our data further suggest the presence of another frequent CF mutation associated with this marker haplotype. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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