Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families

M Macek Jr; V Vavrová; I Böhm; M Stuhrmann; A Reis; R Duspivová; M Macek; K Sperling; M Krawczak; J Schmidtke

doi:10.1007/BF02428289

Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families

Hum Genet. 1990 Sep;85(4):417-8. doi: 10.1007/BF02428289.

Authors

M Macek Jr¹, V Vavrová, I Böhm, M Stuhrmann, A Reis, R Duspivová, M Macek, K Sperling, M Krawczak, J Schmidtke

Affiliation

¹ Department of Clinical Biochemistry, Charles University, Prague, Czechoslovakia.

PMID: 2210755
DOI: 10.1007/BF02428289

Abstract

This study analyses distribution patterns of the delta F508 mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR) gene and the cystic fibrosis (CF)-linked marker loci MET, D7S23, D7S399, and D7S8 in a sample of 167 (116 complete) CF families from Bohemia and Moravia (Czechoslovakia). DNA typing was performed by polymerase chain reaction amplification, restriction analysis, and agarose or polyacrylamide gel electrophoresis. The frequency of the delta F508 mutation in this sample is 67% and the frequency of the B haplotype is 77.6% on CF chromosomes. Linkage disequilibrium was found between delta F508 and all markers tested.

Publication types

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

MeSH terms

Chromosome Deletion*
Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
Czechoslovakia / epidemiology
Gene Frequency
Humans