[Study of the association between constitutional exogenous obesity and polymorphism of the apolipoprotein B gene].

An attempt was made to associate the insertion-deletion (Ins/Del) polymorphism of the apolipoprotein B gene (apoB) with obesity and to identify alleles and genotypes predisposing to this disorder. The apoB Ins/Del allele frequencies observed in the Russian population were similar to those in West European populations and significantly differed from frequencies reported for Asian populations. Patients with obesity did not differ from healthy individuals in allele and genotype frequencies regardless of whether total or sex-stratified samples were compared.

[Analysis of DNA excreted from the body as an approach to diagnosis and monitoring tumor growth].

Proceeding from their early data showing that some portion of DNA originating from apoptotic cells can enter the blood stream and pass through the renal barrier by preserving its template capabilities, the authors analyzed urine DNA from 29 patients with colorectal cancer. PCR was used to compare DNA samples from the normal mucosa surrounding the tumor and from the urine collected just prior to surgery. Six microsatellite loci were studied with oligonucleotide primers.

[Association analysis of polymorphism in angiotensin-converting enzyme gene in ischemic stroke].

Family and twins study demonstrated that genetic factors may be involved in stroke. Previously, insertion/deletion (I/D) Alu-polymorphism in the angiotensin-converting enzyme (ACE) gene has been suggested as a risk factor for some cardiovascular diseases. There fore, cardiovascular factors are well-known risk factors for ischemic stroke.

[DNA genotyposcoy in determining paternity: use of hybridized probes].

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.

[A case of prenatal diagnosis of beta-thalassemia by polymerase chain reaction].

The prenatal diagnosis of beta-thalassemia in the Udin family, where the parents were the carriers of 2 bp deletion in the codon 8 (-AA) was undertaken using PCR. Five polymorphic restriction endonuclease sites in the beta-globin gene region were tested. They are: 2 HindIII sites in the gamma G and gamma A genes, 2 HincII sites located in the pseudogene and in its 3'-flanking region, and the AvaIII site in the second exon of the beta-globin gene.

[Molecular nature of beta-thalassemia in Tajikistan: a four base pair deletion in codons 41-42 of the beta-globin gene].

Thirty tajiks, whose relatives had beta-thalassemia traits (revealed in previous investigations by determination of the HbA-2 and HbF levels) were selected to screen beta-thalassemia mutations. DNA samples from each individual were subjected to the PCR (polymerase chain reaction) to amplify the 635 bp beta-globin gene fragment. One additional band was detected in three samples after the amplified fragment underwent electrophoresis in 2% agarose gel and the EtBr was stained, and two additional ones were revealed by 6% PAAGE and staining of the EtBr.