STR markers of chromosomes carrying F508del and CFTRdele2,3(21kb) mutations of CFTR gene

F508del is the major worldwide mutation of the CFTR gene and the main indication for prenatal and preimplantation diagnosis of cystic fibrosis (CF). The CFTRdele2,3(21kb) mutation is second frequent for the Russian Federation after F508del. STR markers linked with CFTR gene analysis in addition to the mutation detection can increase the accuracy of embryo and fetus evaluation results. Mutant chromosome haplotypes should be taken into account. We analyzed STR markers for 151 DNA samples from 17 CF families and 14 non CF families; haplotyped 136 normal unrelated chromosomes, 32 F508del-chromosomes and 7 CFTRdele2,3(21kb) chromosomes. There was no recombination or mutations for 106 meiosis. Our data revealed that mutant chromosome not enough polymorphic for intragenic markers. Extragenic STR markers allowed to individualize mutant chromosome better for contamination problem detection as well. Allele frequencies for polymorphic microsatellites of introns 1, 6a, 8 and 17b were consistent with Caucasian populations. We got new data for heterozygosity rate and allele structure of normal and F508del- and CFTRdele2,3(21kb)-chromosomes for D7S486, D7S655 and D7S677 markers.

CFTR, муковисцидоз, F508del, CFTRdele2, 3(21kb), STR-маркеры, IVS1, IVS6a, IVS8, IVS17b, D7S486, D7S655, D7S677, CFTR, Cystic fibrosis, F508del, CFTRdele2, 3(21kb), STR markers, IVS1, IVS6, IVS8, IVS17b, D7S486, D7S655, D7S677

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