ABSTRACT
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.
Subject(s)
Founder Effect , Karyotype , Ploidies , Stem Cells/metabolism , Translocation, Genetic , Cell Line , Cell Transformation, Neoplastic , Chromosome Deletion , Chromosomes, Human, Pair 10 , Chromosomes, Human, Pair 13 , Genetic Markers , Humans , Karyotyping , Monosomy , Stem Cells/pathologyABSTRACT
The frequency of common MTHFR, MTR and MTRR genes polymorphisms was evaluated among patients with non-syndromic cleft lip and/or palate (CL/P), their mothers and healthy persons from West-Ukrainian region. MTHFR 677TT genotype was shown to increase more than three-fold risk of CL/P and for mothers the risk of having CL/P children may increase two-fold compared with homozygous carriers of MTHFR 677CC genotype (OR = 3.3, OR = 1.92, respectively). The heterozygous MTR 2756AG genotype was associated with 1.5-fold increased risk of CL/P compared with the AA genotype (OR = 1.48). The heterozygous genotype MTRR 66AG was associated with the 5.56-fold increased CL/P risk (OR = 5.56) and for mothers with 2.6-fold increased risk of delivering a CL/P offspring (OR = 2.6). The results showed that MTRR 66G allele is more prevalent than MTRR 66A (wild type) and the MTRR 66GG genotype frequency was significantly lower among CL/P patients and their mothers than in control group among Western Ukrainian inhabitants.
Subject(s)
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics , Cleft Lip/enzymology , Cleft Palate/enzymology , Ferredoxin-NADP Reductase/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Genetic , Alleles , Case-Control Studies , Cleft Lip/complications , Cleft Lip/epidemiology , Cleft Lip/genetics , Cleft Palate/complications , Cleft Palate/epidemiology , Cleft Palate/genetics , Female , Genetic Predisposition to Disease , Heterozygote , Homozygote , Humans , Mothers , Risk Factors , UkraineABSTRACT
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, immunodeficiency and high predisposition for malignancies, particularly B-lymphoma. Clinical and genealogical analysis has been conducted in 7 families with NBS. Eight children with NBS (5 boys and 3 girls) were observed at the age from 7 months to 11 years. All the children were homozygous carriers for mutation 657del5. Oncohematological complications developed in 5 cases (4 cases of lymphoma and one case of lymphohystiocytosis) at the age of 6-12 years. NBS in probands is often accompanied with birth defects, especially with kidney pathologies. Considerable reproductive losts in the families with NBS were noted mainly among males who died at the age less than one year (4-6 events in the families). The cases of digestive system cancers (stomach, rectum, duodenum) were revieled in the family-trees. Consanguineous couple was observed in 1 case (marriage between third cousins) and 2 children had developed NBS in this family. Genealogical analysis seems to be very informative to predict somatic and reproductive disturbances in NBS families.
Subject(s)
Chromosome Breakage/genetics , Genetic Predisposition to Disease , Pedigree , Child , Child, Preschool , Congenital Abnormalities/genetics , Female , Homozygote , Humans , Immunologic Deficiency Syndromes/genetics , Infant , Male , Mutation , Neoplasms/genetics , SyndromeABSTRACT
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.
