[DNA genotyposcoy in determining paternity: use of hybridized probes]. / Genotiposkopiia DNK v opredelenii spornogo ottsovstva: ispol'zovanie gibridizatsionnykh zondov.

Analysis of hybridization probes for DNA genotypescopy (DNA genotyping and genome fingerprinting) was performed to detect 21 cases of paternity testing. A system with the highly informative multilocus DNA probe Red4, isolated by us earlier, and two single-locus probes (YNH24 and CMM101) detecting highly polymorphic (H > 96%) loci D2S44 and D14S13 was tested. In the cases analyzed, the Red probe was shown to detect, on average, 19.28 +/- 3.6 polymorphic BsuRI fragments in the DNA profile of presumable fathers and 19.67 +/- 5.84 BsuRI fragments in the DNA profile of mothers. The average number of DNA fragments inherited by a child from either parent was approximately equal (8.72 +/- 3.77 and 7.11 +/- 2.66, respectively). The low population frequency of DNA fragments detected by the Red4 probe allowed highly effective positive paternity identification to be performed. Paternity was established in 86% (with probability > 99.75 or > 99.99%) and excluded in 14% of expertises. Single-locus probes YNH24 and CMM101 were used as an additional criterion in cases when, in the DNA profile of a child, a single band (probable de novo mutation) or several bands (probable false paternity or maternity) were revealed but absent in both presumable parents. In once case, a de novo mutation for the YNH24 probe, not described earlier, was revealed. Therefore, a combination of multilocus and single-locus hybridization probes appeared to be the most promising method for significant paternity testing in forensic and medical genetic practice.

[Mapping the gene for palmoplantar hyperkeratosis (thylosis) to chromosome 17 in the 17q12-q24 region]. / Kartirovanie gena ladonno-podoshvennogo giperkeratoza (tiloza) na 17-i khromosome v raione 17q12-q24.

Mapping of the genetic defect causing dominant palmoplantaris hyperkeratosis (PPHK) was continued based on the material of an extended Uzbek pedigree. No linkage between the PPHK gene and hypervariable DNA markers from 8p, 12p, 14q, and 22q were revealed. The study of PPHK gene linkage with DNA markers covering the entire length of 17th chromosome mapped the PPHK gene to 17q12-q24 and revealed close linkage with KRT10 and D17S800 loci (zero recombination frequency at a lod score > 7). The possible location of a PPHK mutation in one of the keratin genes mapped to the same region on the 17th chromosome is discussed.

Individual-specific patterns of human variable genomic regions detected by a DNA probe from the HIV-1 env gene.

It was postulated that similar genetic elements that are 'hot spots' for genetic variation might exist in both the HIV-1 and the human genome. To test this possibility a short repeated sequence from a region of variability in the HIV-1 glycoprotein (env) gene was amplified and used as a probe for blot hybridization with human genome DNA. Human genomic regions were hybridized and characterized by a set of polymorphic restriction DNA fragments. The pattern of the restriction fragments was individual specific. Thus a DNA probe from the HIV-1 env gene can serve as a genetic marker for hybridization with human genome regions and for the identification of individuals.

[High molecular weight forms of GTP-binding regulatory proteins from the bovine cerebellum]. / Vysokomolekuliarnye formy GTP-sviazyvaiushchikh reguliatornykh belkov iz mozzhechka byka.

A new form of a low Km GTPase belonging to the family of regulatory GTP-binding G-proteins has been identified in bovine cerebellum. The molecular weight of this G-protein is several times as high as that of other G-proteins known to be alpha beta gamma heterotrimers: i. e., Gs, Gi, Go, transducin and a new G-protein which had recently been isolated in our laboratory from bovine cerebellum. The high molecular weight G-protein is stable against dissociation; its molecular mass does not change after treatment with DTT, colchicine and NaF. Using antibodies against the alpha-subunit of the formerly isolated cerebellar G-protein and the transducin beta-subunit, it was demonstrated that the both immunoreactive subunits are present in the high molecular weight G-protein. The two forms of the cerebellar G-proteins, i. e., "high" and "low molecular weight" ones, differ drastically in terms of the Mg2+ effect on their GTPase activity. Whereas at submicromolar concentrations of Mg2+ the GTPase activity of the former is virtually absent, the GTPase activity of the latter is more elevated in the presence of EDTA than in the presence of Mg2+.