Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population

A Reis; S Bremer; M Schlösser; M Dueck; I Böhm; J Hundrieser; M Macek; M Stuhrmann; M Wagner; T Dörk

doi:10.1007/BF02428292

Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population

Hum Genet. 1990 Sep;85(4):421-2. doi: 10.1007/BF02428292.

Authors

A Reis¹, S Bremer, M Schlösser, M Dueck, I Böhm, J Hundrieser, M Macek, M Stuhrmann, M Wagner, T Dörk, et al.

Affiliation

¹ Institut für Humangenetik, Freie Universität, Berlin, Germany.

PMID: 2210758
DOI: 10.1007/BF02428292

Abstract

We have measured the frequency of the delta F508 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 delta F508 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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
Gene Frequency
Germany, West / epidemiology
Haplotypes
Humans
Mutation