Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
A dermatoglyphic research on the absence of the palmar c-triradius was carried out in a Canadian family line originating from a French married couple who settled in the Quebec City area in 1649. Of the 51 individuals examined, 34 showed that c-triradius was missing on one or both palms. The study of the family tree and of the data confirms the hypothesis that an absent palmar c-triradius is an autosomal dominant trait transmitted by an heterozygous genotype with, in the present observation, an incidence of 66,6% and an estimated penetrance of 44,1%.
Chromosomal abnormalities (CA) represent a significant part in the congenital and hereditary diseases of man. Because of the high need for cytogenetic analysis in January, 2011 a new cytogenetic laboratory was established in ICBFM SB RAS. For 1 year and 8 months more than 450 people was examined (including 21 cases with prenatal diagnosis (PD)), and 34 cases of CA was revealed. The diagnostics allows to choose symptomatic treatment for patients with CA or to prevent the birth of a child with serious CA and to plan a family. Our future plans is to develop of PD (amniocentesis) and to use the methods of molecular cytogenetic.
The chromosome dicentric aberrations in the lymphocytes and levels of antibodies to human thyroid microsomal antigen in the serum of the children lived in the area of Bryansk Province suffered from the Chernobyl accident was examined. Correlation between those tests was not estimated: the autoantibodies were revealed in group with dicentrics and without those in 4.0% and 4.5% of cases correspondingly. Antimicrosomal antibodies were revealed more frequently (5.0%) and in higher titers in the children from the more polluted Bryansk Province than in those from Kaluga Province (3.1%). These data can testify about the role of inside radiation of thyroid gland in appearance of autoimmune thyroiditis signs.
OBJECTIVES: The effects of occupational and leisure-time exposures on the risk of acute myeloid leukemia (AML) were investigated with emphasis on clonal chromosome aberrations (CCA) and morphological subtypes. METHODS: Consecutively diagnosed cases of AML (N=333) and 1 population referent per case were retrospectively included in the study. Information on worktasks, companies, and leisure-time activities was obtained with telephone interviews. Exposure probability and intensity were assessed by occupational hygienists. Associations were evaluated with logistic regression. RESULTS: Exposure to organic solvents was associated with an increased risk of AML [low exposure: OR 1.5 (95% confidence interval (95% CI) 1.0-2.3, moderate-high exposure: OR 2.3 (95% CI 1.0-5.0)]. For exposure to solvents, but not to benzene, the OR was 1.2 (95% CI 0.69-2.0) for "low" and 2.7 (95% CI 1.0-7.3) for "moderate-high" exposure. The observed effects increased with intensity and duration of exposure. The estimated effects were higher for patients >60 years of age at the time of diagnosis. The effect of exposure to organic solvents was not differential with regard to morphology [except possibly erythroleukemia: OR 4.2, 95% CI 1.0-17 or the presence of CCA in general]. No increased risk for AML with complex CCA or with total or partial losses of chromosomes 5 or 7 were observed, but a higher risk was found for AML with trisomy 8 (OR 11, 95% CI 2.7-42) as the sole aberration. CONCLUSIONS: Exposure to organic solvents was associated with an increased risk of AML. This association was not due to benzene exposure alone and may be modified by age. Furthermore, specific associations with trisomy 8, and possibly also erythroleukemia, were suggested.
Cytogenetic investigation of plant cells and somatic cells of children from Dnepropetrovsk shown and increase of the frequency of chromosome aberrations and gene mutations in contaminated regions that testified the increased mutagenic background of urban environment.
We have summarized the results of cytogenetic studies of peripheral blood lymphocytes conducted in the institutions of Kiev and Kharkov in persons irradiated after the accident of the Chernobyl NPP. The average level of chromosomal aberrations and the appearance of cytogenetic markers characteristic of their irradiation effect was higher in the examinees in comparison with the control. The increase in the number of aberrations in certain Kiev residents as well as the development of lymphogranulomatosis in some liquidators of the accident were detected. The increase in the frequency of chromosomal aberrations in liquidators of the accident was accompanied by the reduction in the level of reparative DNA synthesis of blood lymphocytes. The necessity to expand cytogenetic examination in persons that participated in the liquidation of the accident on the ChNPP and Kiev inhabitants is discussed.
Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol.