Molecular-genetic nature of cystic fibrosis, a human hereditary disease

Molecular genetic analysis of DNA patient with cystic fibrosis to determine the nature of mutation to be the reason of this disease. DNA was obtained from fibroblast of given patient according to generally known methods. For that a pair of primers to DNA fragment in 10 exon were a mutation conditioning cystic fibrosis was designed. With help PCR-amplification an amplicon containing desired mutation. The electrophoresis of amplified material one band in DNA of which about 153 nucleotides are contained has shown. The nature and sequence of nucleotides in this fragments were established. A comparison of sequence date for this fragments of cystic fibrosis patient with date of health human has shown existence of mutation on the level of 10 exons at position 1521-1523 of the coding sequence of the CFTR gene, which is the loss of 3 pairs of nucleotides, which, according to conventional ideas, refers to the F508del mutation. The analysis sequence date allowed attribute to compound heterozogotes.

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