[The use of DNA from phage M13 for the analysis of interindividual polymorphism of human DNA as demonstrated by a population study in Krasnodar city]. / Ispol'zovanie DNK faga M13 dlia analiza mezhindividual'nogo polimorfizma DNK cheloveka na primere izucheniia populiatsii g. Krasnodara.

Hypervariable "minisatellite" regions detected in human genome by wild-type M13 DNA were found to have high polymorphism and somatic stability. Analysis of individual specific patterns of 34 human DNAs from Krasnodar population is presented. The observed length of fragments ranged from 2 to 6 kb. The mean frequency of a fragment in the population under study is p = 0.247 +/- 0.171, the mean number of fragments per individual being x = 9.35 +/- 1.95. The mean probability of individual identification is calculated to be 1-2.10(-6) = 0.999998.

De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene.

A proband homozygous for the PiZ allele of the alpha-1-antitrypsin gene was found to be a heterozygous carrier of the additional nucleotide substitution (C-T) within the intron IV-exon V junction (position 9955 in intron IV, 3 bp upstream of its 3'-splice site). This mutation was not found in DNA from either the PiZ heterozygous parents or the PiZ homozygous brother of proband.