Molecular analysis of cystic fibrosis in the Hungarian population
| Autor: | Nemeti M, John P. Johnson, Elaine Louie, Zoltán Papp |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Linkage disequilibrium Cystic Fibrosis Genetic Linkage Population Cystic Fibrosis Transmembrane Conductance Regulator Locus (genetics) Cystic fibrosis Genetics medicine Humans Allele ΔF508 education Genetics (clinical) Hungary education.field_of_study biology Membrane Proteins medicine.disease Cystic fibrosis transmembrane conductance regulator Genetics Population Haplotypes Mutation biology.protein Restriction fragment length polymorphism Polymorphism Restriction Fragment Length |
| Zdroj: | Human Genetics. 87 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00197180 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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