Familial hemiplegic migraine is only one type of migraine with well-studied molecular genetic mechanism. This is a rare neurological disease of humans that is described only in 200 families worldwide and in sporadic forms. However, understanding of the molecular mechanisms of hemiplegic migraine expands our understanding of the etiology of classical migraine. In this review available to date information about the genetic basis of hemiplegic migraine, its clinical presentations and a brief overview of approaches to treatment are presented.

 Allele frequencies of sevengenes contributing to cellular immune response to parasitic infections, polarization of immune response to Th2 type and associated with atopic and allergic phenotypes was studied in 15 World popu I ations. Selection of genes and populations under study was based on the hypothesis of a shift in preferential immune response balance from Th2 to Th1 type during migration of modern humans from equatorial Africa to moderate and arctic climate regions. It is suggested that this shift was due to natural selectionprocess of adapttion of populations to a new environment. We found the systematic change in frequencies of alleles involved in immune response and inflammatory reactions during the dispersion of human population from Africa. These changes may contribute to changes in a structure of common diseases and be explained by the hypothesis of canalization/decanalzation of geno-type-environment relationships occurring under the pressure of natural selection.

The analysis of differences in the expression rates of the main circadian genes CLOCK, BMAL1, and PER1 in human oral mucosa cells between patients with essential hypertension (EH) and healthy individuals was carried out for the first time. The expression levels of the genes were calculated at 9:00 a.m., 1:00 p.m., and 5:00 p.m. Patients with EH exhibited lower expression levels of the CLOCK gene at 1:00 p.m. and 5:00 p.m. as compared with control group. The expression levels of the BMAL1 gene were significantly lower at 9:00 a.m. and 1:00 p.m. in comparison with healthy individuals. Patients with EH exhibited lower expression levels of the PER1 gene at all time points as compared to control group. The signifi cant positive corre i ation between expression levels of CLOCK and PER1, BMAL1 and PER1 genes was shown in control group and donors with EH at all time points using Spearman rank correlation analysis.

We present data concerning frequencies of polymorphic variants of DNA repair (MLH1 (rs1799977), PMS2 (rs1805321), XRCC1 (rs25487)), cell cycle control (TP53 (rs1042522)) and metabolism of xenobiotics (Cyp2C19 (rs4244285), GSTT1 (del) и GSTM1 (del)) genes in cohort of plutonium workers and control group. Also, subgroups with vari ous levels of chromosome abnormalities are considered (with high and low levels of chromosome aberrations, aneuploidy and micronuclei). There were no signifi cant differences of allele and genotype frequencies between group of plutonium workers and control group. However, significant differences of rs1799977 MLH1 genotype frequencies was observed between subgroups with different levels of chromosome aberrations (p=0.047) and GSTT1/GSTM1 genotype frequencies between subgroups with high and low levels of aneuploidy (p=0.032). There were also differences between subgroups regarding to genotype frequencies at other loci, but insignificant. Allele frequencies differences were registered only in XRCC1 (rs25487) between subgroups with different levels of chromosome aberrations (p=0.039).

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characteri zed by progressive loss of cortical and spinal motor neurons, the development of paralyses, and death from respiratory and bulbar failure. About 10% of ALS cases are caused by mutations in several genes, among which most important is Cu/Zn superoxide dismutase (SOD1) gene. Two hundred and six ALS patients (98 females and 108 males) were examined, including 9 patients from 8 unrelated families with a familial form of ALS. On molecular genetic analysis, SOD 1 coding mutations were detected in 50% of familial cases and 3% of sporadic cases of the disease. In the paper, a spectrum of mutations revealed in Russian patients with ALS and most representative cases of a familial form of ALS demon-strati ng the need for medi cal genetic counseli ng in affected fami l ies are presented.

Genetic diversity of SNP markers of Interleukin 4 alpha and Interleukin 4 receptor genes was investigated in 4 populations of native Siberian ethnic groups (Buryat, Yakut, Ket and Khant). In the populations under study, except Khants, the close spectrum of allele frequencies and similar level of expected heterozygosity were revealed and low level of genetic differentiation was found.