The incidence of ΔF508 CF mutation, and associated haplotypes, in a sample of English CF families
| Autor: | Elizabeth M. Thompson, Edward S. Mayall, Robert Williamson, John O. Warner, Lidija Simova, Carolyn Williams, E. K. Watson |
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| Rok vydání: | 1990 |
| Předmět: |
Delta
Genetics congenital hereditary and neonatal diseases and abnormalities Cystic Fibrosis Incidence (epidemiology) Haplotype Meconium Ileus Chromosome respiratory system Biology medicine.disease Cystic fibrosis digestive system diseases respiratory tract diseases England Haplotypes Mutation Mutation (genetic algorithm) medicine Humans Caucasian population Genetics (clinical) |
| Zdroj: | Human Genetics. 85:435-436 |
| ISSN: | 1432-1203 0340-6717 |
| Popis: | Data are presented for delta F508 screening and KM19/XV2c haplotype analysis of 195 cystic fibrosis (CF) chromosomes from the British Caucasian population. We report the frequency of delta F508 in this group to be 80% and find pronounced disequilibrium between the deletion and the KM 2, XV 1 haplotype. Haplotype analysis of 71 normal chromosomes is also presented. We report one individual who had meconium ileus and who does not have the delta F508 mutation on either chromosome. |
| Databáze: | OpenAIRE |
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