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1.
Tsitol Genet ; 47(5): 55-69, 2013.
Artigo em Ucraniano | MEDLINE | ID: mdl-24236325

RESUMO

Long-term cultivation of human cells, including stem cells, can lead to substantial transformation of the karyotype and occurrence of genetic instability. The aim of this research was a comparative cytogenetic study of the karyotype of a new human stem cell line 4BL at 160 and 205 passages. The absence of 10 and 13 pairs of chromosomes and the monosomy of chromosomes 4, 8, 10, 11, 13, 15, 17, 21, X were observed; also six regular marker chromosomes were detected. Chromosomes 1, 15 and 21 are involved in translocations t(l;11), t(5;15), t(12; 15), t(16;21). Modal class of the karyotype is within 41-43 chromosomes at both 160 and 205 passages. The frequency of polyploid cells have been increased from 2.8% at 160 passage up to 36% at 205 passage. Cells with a near-haploid karyotype were not detected at 205 passage (in contrast to 24.6% at 160 passages) and a decline of the level of premature separation of chromatids was observed. We assume stabilization of karyotype of the cell line 4BL at 205 passage and consider that further research is needed to predict the direction of karyotypic evolution of these cells in vitro.


Assuntos
Efeito Fundador , Cariótipo , Ploidias , Células-Tronco/metabolismo , Translocação Genética , Linhagem Celular , Transformação Celular Neoplásica , Deleção Cromossômica , Cromossomos Humanos Par 10 , Cromossomos Humanos Par 13 , Marcadores Genéticos , Humanos , Cariotipagem , Monossomia , Células-Tronco/patologia
2.
Tsitol Genet ; 42(2): 46-50, 2008.
Artigo em Ucraniano | MEDLINE | ID: mdl-18630120

RESUMO

The results of molecular-genetic study of Y-chromosome microdeletions in men with spermatogenesis failure and in patients with cryptorchism are presented. The molecular-genetic studies of regions AZFa, AZFb, AZFc in STS loci - sY84, sY86, sY127, sY134, sY254, sY255 and SRY gene have been performed. Y-chromosome microdeletions were detected in 13,3% infertile men with spermogram failure. The frequency of genetic (cyto- and molecular) abnormalities among boys with isolated cryptorchism was 4%. The results show the necessity of additional study ofgenetic factors ofcryptorchism development.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Y/genética , Infertilidade Masculina/genética , DNA/genética , Eletroforese em Gel de Ágar , Humanos , Cariotipagem , Leucócitos/metabolismo , Masculino , Reação em Cadeia da Polimerase , Prognóstico
3.
Tsitol Genet ; 28(3): 75-9, 1994.
Artigo em Ucraniano | MEDLINE | ID: mdl-7974789

RESUMO

The frequency and the pattern of chromosomal aberrations as well as the frequency of metaphase plates with premature chromatid disjunction, polyploidy and endoreduplication were studied in lymphocyte cultures of women with disturbances of the menstrual function and in healthy women. The frequency of metaphase plates was significantly increased in persons with Turner's syndrome and reduced in the groups with amenorrhea 1 and 2 in comparison with the group of healthy women. There was no difference in chromosomal aberration pattern. Premature chromatid disjunction is characteristic of patients with disturbances of the menstrual function and healthy women. The frequency of metaphase plates with premature chromatid disjunction was elevated in groups with Turner's syndrome, amenorrhea 1 and premature sexual maturation in comparison with the control.


Assuntos
Aberrações Cromossômicas/genética , Distúrbios Menstruais/genética , Adulto , Amenorreia/genética , Células Cultivadas , Cromátides/genética , Feminino , Humanos , Linfócitos/ultraestrutura , Metáfase , Poliploidia , Puberdade Precoce/genética , Síndrome de Turner/genética
4.
Tsitol Genet ; 27(4): 55-61, 1993.
Artigo em Ucraniano | MEDLINE | ID: mdl-8249165

RESUMO

Girls-teenagers and women with menstrual disturbances were examined cytogenetically and clinically with special respect to the thyroid function. The rate of chromosomal pathology in the studied group was 29.5%. The rate of aberrant cells proved to be elevated in cases of primary and secondary amenorrhea as compared with the control. Chromatid aberrations were typical of the Turner syndrome (8.1% as against 2.1% in controls). In cases of menstrual disturbances the C-segment macrovariants were detected in chromosomes 9 and 16, so as inverted C-segments. The thyroid hyperplasia of the 1st, 2nd stages was detected at the rate of 81.2% among the teenaged girls with menstrual disturbances and TSH-hypophysis-hyperfunction was typical of women with primary or secondary amenorrhea, providing evidence for the secondary origin of thyroid hormonal disturbances.


Assuntos
Amenorreia/genética , Aberrações Cromossômicas/genética , Glândula Tireoide/fisiopatologia , Adolescente , Adulto , Amenorreia/epidemiologia , Amenorreia/etiologia , Amenorreia/fisiopatologia , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 16 , Cromossomos Humanos Par 9 , Feminino , Variação Genética/genética , Humanos , Incidência , Cariotipagem , Fenótipo
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