𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular analysis of cystic fibrosis in the Hungarian population

✍ Scribed by Margit Nemeti; Elaine Louie; John P. Johnson; Zoltan Papp

Publisher
Springer
Year
1991
Tongue
English
Weight
177 KB
Volume
87
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CFTR gene. The delta F508 deletion was present in 64% of CF chromosomes. As in many other populations, linkage disequilibrium was found between the CF locus and the haplotype B (XV-2c: allele 1, KM-19: allele 2), which accounts for 95% of delta F508 CF chromosomes in our families.

πŸ“œ SIMILAR VOLUMES

Population variation of common cystic fi
Population variation of common cystic fibrosis mutations
✍ The Cystic Fibrosis Genetic Analysis Consortium πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 707 KB

regarding the manuscript are gratefully acknowledged. The operating cost of the Consortium is supported by a grant from the Cystic Fibrosis Foundation of the USA.

Analysis of 14 cystic fibrosis mutations
Analysis of 14 cystic fibrosis mutations in five South European populations
✍ V. Nunes; P. Gasparini; G. Noyelli; A. Gaona; A. Bonizzato; F. Sangiuolo; A. Bal πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 202 KB

We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from AF508, were G542X (6.04%), R1162X (3.61%) and N1303K (3.24%). Each of the other analysed mutations were present at a