Microsatellite haplotypes of Polish cystic fibrosis alleles: delta F508 chromosomes demonstrate a North-South haplotype frequency gradient
| Autor: | André Reis, Wojciech Cichy, Katarzyna Dziechciowska, Michał Witt |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Genetics
Cystic Fibrosis Haplotype Population genetics Cystic Fibrosis Transmembrane Conductance Regulator Biology Polymerase Chain Reaction Haplotypes Genetic marker Mutation (genetic algorithm) Mutation Microsatellite Polymorphic Microsatellite Marker Humans Poland Allele ΔF508 Genetics (clinical) Microsatellite Repeats |
| Zdroj: | Human heredity. 46(6) |
| ISSN: | 0001-5652 |
| Popis: | Analysis of haplotypes of three intragenic, highly polymorphic microsatellite markers (IVS8CA, IVS17BTA, IVS17BCA) of the CFTR gene was performed on a sample of 96 CF chromosomes of Polish origin. Twenty different haplotypes were detected in delta F508 chromosomes. Of these, four haplotypes (23-31-13; 23-32-13; 17-31-13; 17-32-13) represent 67.1% of the overall pool of delta F508 chromosomes. Distribution of these haplotypes, together with frequencies of the delta F508 mutation, are intermediate between Northern- and Southern-European populations and correlate with established gradients. |
| Databáze: | OpenAIRE |
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