PubMed Health⌕ Search

Biomedical subjects

N P Kuleshov

Publications and source records attributed to N P Kuleshov.

At least 19 recordsLinked to original sources
PubMed2003

[Chromosomal instability parameters in the population affected by nuclear explosions at the Semipalatinsk nuclear test site].

A population genetic survey of 149 persons who were born and have permanently lived in the contaminated zones of the Semipalatinsk region has been performed. A cytogenetic study has demonstrated that the frequency of aberrant cells is 1.7-3 times higher than control parameters. The total frequencies of chromosome aberrations are 3.43 +/- 0.48, 3.1 +/- 0.3, 1.8 +/- 0.2, and 1.15 +/- 0.17 aberrations per 100 cells in the populations of the extreme radiation risk (ERR), maximum radiation risk (MaxRR), minimum radiation risk (MinRR), and control zones, respectively. The high chromosome aberration rate in all three zones of radiation risk has been detected mainly due to radiation-induced chromosome markers, including paired fragments (1.2 +/- 0.2, 0.94 +/- 0.13, and 0.43 +/- 0.06 per 100 cells, respectively), dicentric and ring chromosomes (0.44 +/- 0.04, 0.45 +/- 0.07, and 0.11 +/- 0.02 per 100 cells, respectively), and stable chromosome aberrations (0.74 +/- 0.16, 0.8 +/- 0.1, and 0.63 +/- 0.13 per 100 cells, respectively). The qualitative spectra of the cytogenetic lesions observed in these groups indicate a mutagenic effect of ionizing radiation on chromosomes in the populations studied.

Chromosome Aberrations↗
PubMed2002

[Chromosomal abnormalities in lymphocytes from a patient with Werner's syndrome in intact culture and after treatment with halogenated analogs of thymidine].

Four balanced chromosomal translocation, deletion of chromosome 15, and a break in chromosome 11 were detected in 100 G-banded metaphases of cultured lymphocytes of a patient with Werner's syndrome. We observed aneuploidy that included both trisomies and monosomies for various chromosomes. Halogenated analogs of thymidine in low doses increased significantly the incidence of chromosome aberrations accompanied by fragments. 5-Iododeoxyuridine induced lesions in centromeric regions of B-group chromosomes in 44.4% of all the cases of breaks. A hypothesis is proposed about the existence of a special mechanism for genetic control in changes in the cell nucleus and mitotic chromosome transformation. This mechanism can be manifested after the application of halogenated analogs of thymidine. The mutation involved in Werner's syndrome is presumably related to this mode of genetic control.

Adult↗
PubMed2001

[Inheritance of Wolff-Parkinson-White syndrome and evolution of its clinical symptoms in families of patients in a prospective trial].

Medicogenetic examination was conducted in families of 46 patients (21 women and 25 men aged 16-74 years) with Wolff-Parkinson-White (WPW) syndrome. A total of 256 relatives were investigated (136 women and 120 men aged 2 to 85 years). As a result, the diagnosis of preexcitation syndrome and phenomenon was made initially in 75(29.3%) of the relatives: WPW syndrome, Clerc-Levy-Cristesco (CLC) syndrome, CLC phenomenon was made in 6(2.3%), 27(10.6%) and 42(16.4%) relatives, respectively. Additional conduction pathways in the families with WPW syndrome are inherited by the autosome-dominant type with penetrability 0.94(94%) and clinical polymorphism. Prospective observation of the families revealed evolution of the clinical symptoms (development of arrhythmia) in the relative with CLC or WPW phenomenon in unfavorable exo- and endogenic factors. WPW syndrome evolution in the patients ran with aggravation of arrhythmia though 12 patients showed improvement.

Adolescent↗
PubMed1996

[Molecular-genetic characteristics of the deleted region of chromosome 8q24.1 in Langer-Giedion and tricho-rhino-phalangeal type I syndromes].

A molecular-genetic characterization of deletions in part of chromosome 8q24.1 was performed in patients with Langer-Giedion syndrome (six patients) and triho-rhino-phalangeal syndrome type I (three patients) by means of Southern blot hybridization analysis, restriction fragment length polymorphism and single-strand conformation polymorphism, analysis. Four families with multiple exostosis chondrodysplasia (MECD) also underwent the same analysis. Results of deletion mapping allowed determination of the probable region of localization of the proposed gene of MECD at D8S67 locus. By means of a polymorphic DNA probe obtained from the locus an additional hybridization signal was revealed only in patients with MECD. Other polymorphic DNA probes and microsatellite sequences confirmed the results of deletion mapping and detected haplotypes on the chromosomes with a mutation in the proposed MECD gene.

Abnormalities, Multiple↗
PubMed1993

[Molecular diagnosis of fragile X-chromosome syndrome (Martin-Bell syndrome) in patients of native populations].

63 families at-rist of Fragile X-syndrome (FraX) are subjected to Southern blot analysis with the DNA probes Ox1.9 and Ox0.55. Molecular studies have confirmed an initial clinical diagnosis of FraX in 26 families earlier studied cytogenetically and in 11 of 27 families with only some clinical traits of FraX syndrome in proband. Full mutation and premutation condition of FMR-1 gene was ascertained in 34 and rejected in 18 close relatives of probands with the proved FraX syndrome in 37 and families. Four different patterns of pathological alleles are detected at electrophoretograms of DNA samples restricted by endonuclease RcoRI and hybridized to the DNA probe Ox1.9. Prenatal diagnosis of FraX was carried out in two cases at the 1st and 2nd trimester of pregnancy. Perspective of broad application of molecular methods for early diagnostics and prophylactic of FraX syndrome are briefly discussed.

Alleles↗
PubMed1991

[Prenatal cytogenetic diagnosis using chromosomal preparations of the native biopsy samples of chorionic villi, cultured chorionic cells and amniocytes].

Analysis of the results of prenatal cytogenetic diagnosis carried out in the first and second pregnancy trimesters in more than 300 women permitted comparing the efficacies of two methodologic approaches, diagnostic amniocentesis and chorion sampling , with due consideration for the methodologic errors typical of these methods and of the tested biologic material. Up to 5% of the diagnoses are erroneous if the diagnosis is based on chorion sampling data, whereas in amniocentesis the share of diagnostic errors is lower by an order. The authors have given a theoretical rationale for and tried a methodologic approach, involving the employment of the 'direct' chromosomal preparations from villous chorion biopsy specimens and the so-called 'maintained' cell culture technique, that permits obtaining chromosomal preparations of higher quality and, consequently, helps improve the accuracy of chromosomal diagnosis.

Adult↗
PubMed1990

[Phenotype and "critical segments" of chromosomes during partial aneuploidy for chromosome 4 in man].

Computerized analysis of sparse matrix, based on the list of involved organs, body parts, extremities, function etc. (total item number about 600) was performed for different cytogenetically identified anomalies of human chromosome 4 (35 cases of 4p-, 32 cases of 4p+, 39 cases of 4q-, 39 cases of 4q+; both published and original data were used). For each of the four types of partial aneusomy, 4 specific enough groups of traits were revealed which had been found in 50% of respective patients, at least. Such "nuclei" of traits were highly similar to those given in comprehensive modern manuals. However, 4p- and 4q- could only be classified as strictly enough delineated chromosomal syndromes. The 4(p14-pter) region was found to be the most likely crucial segment for the Wolf-Hirschhorn syndrome.

Aneuploidy↗
PubMed1987

[Langer-Giedion syndrome and deletion in the long arm of chromosome 8].

Del(8) (q24.11-q24.13) were detected in 3 patients with typical Langer-Giedion syndrome (LGS) and studied by high-resolution methods. Analysis of the literature strongly suggests the chromosomal ethiology of the LGS, because in all patients examined in detail a deletion of the segment 8(q24.11-q24.13) was revealed, which is critical for the LGS. Interrelationships between the LGS and two monogenic conditions-tricho-rhino-phalangeal syndrome type I and multiple exostoses are discussed. The possible role of c-myc oncogene in exostoses' (including those in LGS) origin is anticipated.

Adolescent↗
PubMed1987

[Spontaneous and induced chromosome instability in patients with fragile X syndrome].

Spontaneous and degranol- and dimatiph-induced chromosomal instability in the lymphocyte culture of patients with fra-X syndrome was investigated. The cultures contained TC 199 and 5% FC serum. It was found that the frequency of spontaneous chromosomal aberrations (CA) was 7.3% in cells from patients with fra(X), 3.9% in patients with MR of unknown origin, and 1.3% in normal individuals. Spontaneous break-points in the patients with fra(X) were localized in 1p, 2q, 3p, 6q, 7q, 16 q more often than in normal individuals. No significant difference was found in SCEs. The cells of patients with fra(X) were not sensitive to the induction of CA by degranol. It was found that chromosomal telomeric changes (CTC) were mutagen-independent, remaining at the spontaneous level: in the patients with fra(X) CTC were 10.5% (9.5% fra-Xq27, and 1% autosomal telomeric changes); in normal individuals CTC were 0.1%.

Cells, Cultured↗
PubMed1980

Monitoring the occupational exposure to mutagens by the cytogenetic analysis of human peripheral lymphocytes in vivo.

Cytogenetic analysis of peripheral lymphocytes of workers occupationally exposed to mutagens appears to be a routinely acceptable technique to recommend as a biological indicator of genetic damage to somatic cells due to an overexposure to chemicals in the workplace. A scheme is suggested of genetic risk estimates in workers on the background of cytogenetically detected levels of aberrant cells.

Chromosome Aberrations↗
PubMed1980

Cytogenetic analysis of peripheral lymphocytes in workers occupationally exposed to epichlorohydrin.

Peripheral lymphocytes of 3 groups of adult subject (28 workers occupationally exposed for 4 years to epichlorohydrin [ECHH], 34 matching controls and 21 subjects of the general population (control group) were cytogenetically analysed. In total, 11 806 metaphases were scored. The following frequencies of aberrant cells (bearing mostly chromatid and chromosome breaks) were detected in individual groups: ECHH-exposed group 3.12%; matching controls 2.06%; general population control group 1.33%. The results seem to indicate that even the concentration of 1 mg ECHH/m3 was capable of increasing the frequency of aberrant cells in the occupationally exposed group of workers.

Adult↗
PubMed1979

[Frequency of chromosome variants in human populations].

Chromosome variants were analyzed in the course of the population chromosome investigation of 6000 newborns and clinical cytogenetic studies of 403 married couples with recurrent spontaneous abortions, stillbirths or offsprings having congenital malformations or Down's syndrome. The following variants were determined: 1) Igh+, 9gh+, 16gh+ - the enlargement of the secondary constrictions of the size, more than 1/4 of the long arm of the chromosome; 2) Dp+ or Gp+ - the enlargement of the short arms of acrocentrics, their size being more than the short arm of the chromosome 18; 3) Ds+ or Gs - large satellites of the acrocentrics which are equal or more than the thickness of the chromatids of the long arms; 4) Es+ - satellites on the short arms of the chromosomes 17 or 18; 5) Dss of Gss - double satellites; 6) Yq+ - the enlargement of the long arm of Y chromosome, the size of which being more than G chromosome; 7) Yq- - deletion of the long arm of Y chromosome, the size of the long arm being less than chromosomes 21--22. The total frequency of variants in newborns was 12.8/1000 births. The incidence of different types of variants per 1000 births was as follows: Igh+ - 0.33; 9gh+ - 0.17; 16gh+ - 0.50; Ds+ - 2.33; Dp+ - 1.50; Dp- - 0.17; Gs+ - 0.83; Gp+ - 2.17; Yq+ - 6.91/1000 males; Yg- - 0.99/1000 males; double variants - 0.33; other variants - 0.33. 4.0% of married couples with recurrent spontaneous abortions had major chromosome aberrations, 14.6% - extreme variants of chromosomes. Among 113 couples with the history of congenital malformations in their offsprings major chromosome abnormalities were found in 4.4%, chromosome variants - 13.3%. The frequency of chromosome variants among 139 patients with Down's syndrome was 7.2%. In one case Robertsonian translocation t(DqGa) was determined. The most frequent types of variant chromosomes were Ds+, Dp+, Es+, Yq+.

Abortion, Habitual↗