First analysis of the F508 deletion in cystic fibrosis patients from the GDR
| Autor: | K. Will, U. Brell, J. Gedschold, K. Giermann, J. Hein, K. Grade, H. Gorki, Szibor R, Brückner R, Charles Coutelle, I. Bauer |
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| Rok vydání: | 1990 |
| Předmět: |
Genetics
Linkage disequilibrium Cystic Fibrosis Haplotype Germany West Heterozygote advantage Biology medicine.disease Cystic fibrosis Molecular medicine Molecular biology Human genetics Gene Frequency medicine Humans Chromosome Deletion Allele Restriction fragment length polymorphism Polymorphism Restriction Fragment Length Genetics (clinical) |
| Zdroj: | Human Genetics. 85:406-407 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf02428280 |
| Popis: | Cystic fibrosis (CF) patients (n = 157) from the GDR were analysed for the occurrence of the recently discovered 3bp deletion causing CF. About 50% of all investigated patients were homozygotes and about 30% heterozygotes for this deletion. Of the analysed CF chromosomes from these patients, 62% carry the deletion, which is in strong linkage disequilibrium with the KM19 restriction fragment length polymorphism allele 2 and the 1/2 XV2c/KM19 haplotype. |
| Databáze: | OpenAIRE |
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