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Microsatellite Haplotypes of Polish Cystic Fibrosis Alleles: ΔF508 Chromosomes Demonstrate a North-South Haplotype Frequency Gradient

Michał Witt, André Reis, Wojciech Cichy, Katarzyna Dziechciowska

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Abstract

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.

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What this paper is about

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.

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Available abstract

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.

Key concepts: Haplotype, Genetics, Microsatellite, Biology, Allele, ΔF508, Allele frequency, Mutation

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Microsatellite Haplotypes of Polish Cystic Fibrosis Alleles: ΔF508 Chromosomes Demonstrate a North-South Haplotype Frequency Gradient — Research Paper | ScholarLens