delta F508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population

L Simova; C Williams; G D Efremov; A Gordova-Muratovska; S Sustić; E K Watson; R Williamson

doi:10.1007/BF02428301

delta F508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population

Hum Genet. 1990 Sep;85(4):432-3. doi: 10.1007/BF02428301.

Authors

L Simova¹, C Williams, G D Efremov, A Gordova-Muratovska, S Sustić, E K Watson, R Williamson

Affiliation

¹ Regional DNA Laboratory, St. Mary's Hospital Medical School, London, UK.

PMID: 1976597
DOI: 10.1007/BF02428301

Abstract

Chromosomes from 19 unrelated Southern Yugoslav families in which cystic fibrosis (CF) occurs were analysed for the presence of the delta F508 mutation, using polymerase chain reaction amplification followed by dot blot and polyacrylamide gel analysis. Of the 38 CF chromosomes, 15 (39.5%) carry the delta F508 deletion. Restriction fragment length polymorphism haplotypes for KM19/PstI, XV2c/TaqI and J3.11/PstI marker loci were determined and are compared for a total of 34 N and 37 CF chromosomes.

Publication types

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

MeSH terms

Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
Gene Frequency
Humans
Mutation*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Yugoslavia / epidemiology