ABSTRACT
Cytogenetic karyotyping in mental retardation associated with physical dysmorphism has been regarded as the primary key for the classification of syndromes and other genetic disorders for the predisposition of neoplasia and other fatal diseases. Giemsa-banding of metaphase chromosomes in lymphocytes is a traditional and routine process for the identification of the chromosomal counterpart which can provide a clue for molecular investigation in the subject. An 8-year-old girl showed a diploid karyotype 46, XX, t(3;12) (p21-pter, q24.1-qter) in peripheral blood lymphocyte culture. Biochemical examination of urine labelled her as a case of phenylketonuria. The maternal karyotyping was similar and confirmed the maternal transmission of the translocation.
Subject(s)
Chromosomes, Human, 1-3/genetics , Chromosomes, Human, 6-12 and X/genetics , Phenylketonurias/genetics , Translocation, Genetic/genetics , Abnormalities, Multiple/genetics , Child , Chromosome Banding , Female , Humans , Intellectual Disability/genetics , Karyotyping , Pedigree , PhenotypeABSTRACT
A cytogenetic study of a patient revealed a pericentric inversion in chromosome 8, and spherocytes in 10% of cells, in a routine blood smear. The critical portion which affected the expression of spherocytosis appeared to be localized at 8p22-8q21. The mother's karyotyping showed the transmission of the inversion to the child.
Subject(s)
Chromosome Aberrations , Chromosome Inversion , Chromosomes, Human, Pair 8 , Developmental Disabilities/genetics , Family Health , Female , Humans , Infant , Karyotyping , Male , Meiosis , Models, Genetic , Mothers , SpherocytesABSTRACT
We investigated the involvement of chromosomes in dicentrics and translocations in human peripheral blood lymphocytes exposed to X-rays in vitro. Chromosomes 2, 4, 8, 13, 15, 16, and 22 were analyzed in three cocktails of different combinations using whole chromosome probes (WCP) with the fluorescence in situ hybridization (FISH)-painting technique. The results showed overexpression of chromosomes 2, 8, and 22 in translocation, the majority being of the complete type. Chromosome 4 was underrepresented in translocation formation in both combinations, that is, 2 + 4 + 8 in cocktail I and 4 + 13 + 22 in cocktail II. Its participation in dicentric production was in good agreement with its DNA content in association with 2, 4, and 8, whereas it was underexpressed in the combination of 4 + 13 + 22. DNA-proportional involvement was noticed with chromosomes 13 and 16 in all exchange aberrations. Underexpression of chromosome 15 was observed in translocation, which is contradictory to its overexpression in dicentric formation. The participation of chromosome 22 was predominant for both translocations and dicentrics, compared with its DNA content. The overall observation of our study supports the assumption of DNA-proportional distribution of Lucas et al. However, more data are required for chromosomes 4, 8, 15, and 22 in combination with other chromosomes.
Subject(s)
DNA Damage/radiation effects , Translocation, Genetic/radiation effects , Female , Humans , In Situ Hybridization, Fluorescence , Lymphocytes , Radiation Injuries/physiopathologyABSTRACT
Trimethyltin chloride induced age-related suppression of cell division and cell cycle kinetics in human peripheral blood lymphocytes cultured in RPMI 1640 culture medium supplemented with human AB serum, phytohemagglutinin and bromodeoxyuridine. A high frequency of M1 (first metaphase) cells was seen in cultures treated with a high dose (C1 = 1.0 microgram per culture) and in lymphocytes from donors in the age range 40-70 years. The delay in cell division and cell cycle kinetics may indicate a longer duration in DNA synthesis induced by trimethyltin chloride in aged lymphocytes.
Subject(s)
Aging/pathology , Cell Cycle/drug effects , Cell Division/drug effects , Lymphocytes/cytology , Lymphocytes/drug effects , Trimethyltin Compounds/toxicity , Adenosine Triphosphate/biosynthesis , Adolescent , Adult , Aged , Child , Child, Preschool , DNA/biosynthesis , Female , Humans , Infant , Kinetics , Lymphocytes/metabolism , Male , Middle AgedABSTRACT
Sister chromatid exchanges (SCEs) and cell cycle kinetics were estimated in mitogen stimulated human lymphocytes from a selected group of healthy individuals. Data were examined to evaluate the relationship between SCE frequencies and cell cycle kinetics with donor's age, sex and smoking habit. No regular relationship was observed between the mean SCE frequencies and donor's age, although significant differences were observed between the age groups. Correlation of dispersion coefficient (H) of SCE with donor's age were significant in male and female populations. For cell cycle kinetics, a highly significant age-dependent depression in replicative index (RI) was observed. Female donors possessed a slightly higher SCE frequency and RI, although the variations between the two sexes were not significant. Smoking habit resulted in a significant enhancement of SCEs.
Subject(s)
Aging/genetics , Cell Cycle , Lymphocytes/cytology , Sister Chromatid Exchange , Adolescent , Adult , Aged , Cells, Cultured , Child , Child, Preschool , Female , Humans , Infant , Lymphocytes/metabolism , Male , Middle Aged , Reference Values , Sex Factors , SmokingABSTRACT
Aqueous solutions of trimethyltin in four different concentrations were administered i.p. for three different treatment periods, to five Swiss albino male mice for each experimental set. Bone marrow cells were processed for somatic chromosome preparation after 6, 18 and 24 h following the usual protocol. Structural abnormalities including chromatid and chromosome breaks, dicentrics, rings and fragments were recorded. Critical assessment of the data with the one-tailed trend test revealed a significant positive trend of the dose effects in all three treatment periods. With the ANOVA test, significant variations in aberrations were observed between chemical concentrations and between treatment periods and their interaction (dose x time) was significant in aberrations and mitotic indices. Depression of mitotic index was dose- and duration-dependent.
Subject(s)
Bone Marrow/drug effects , Chromosome Aberrations , Mutagens/toxicity , Trimethyltin Compounds/toxicity , Administration, Oral , Analysis of Variance , Animals , Bone Marrow Cells , Chromatids/drug effects , Dose-Response Relationship, Drug , Male , Mice , Micronucleus Tests , Mitosis/drug effects , Mitotic IndexABSTRACT
Spontaneous baseline frequencies of chromosome aberrations, micronucleus counts and cell division were analysed in peripheral lymphocytes of 127 normal healthy individuals in vitro. Cells were subjected to culture for 48 h in serum and PHA supplemented culture medium RPMI 1640. 100 metaphases were observed for chromosome aberrations and 1000 cells each for micronucleus counts and mitotic index. Regression analyses were carried out to see the effect of age on spontaneous abnormalities. The correlation of aberrations, micronucleus formation and mitotic index with donor's age is highly significant. The elevation of abnormalities and depression of mitotic index were linear to the increase of donor's age, with a higher frequency in males. Aged males and females from the age range of 40-70 years showed larger numbers of aberrations. Individuals with the smoking habit possessed higher frequencies of abnormalities than non-smokers.
Subject(s)
Aging/physiology , Cell Division , Cell Nucleus , Chromosome Aberrations , Lymphocytes/cytology , Adolescent , Adult , Aged , Aging/genetics , Child , Child, Preschool , Female , Humans , Infant , Male , Micronucleus Tests , Middle Aged , Reference ValuesABSTRACT
Age related cytotoxicity of stannic chloride was evaluated in human lymphocytes considering mitotic index (MI), damaged cell (DC), chromosome aberration (CA), and micronuclei formation (MNC) as endpoints. Significant elevation of DCs, CAs, MNCs, and reduction of MI were observed in all classified age groups compared to each control set. The mean frequencies of abnormalities show a statistically significant increase with subject's age. Linearity of the effect of age was common for both untreated and treated lymphocytes of both sexes.
Subject(s)
Chromosome Aberrations , Lymphocytes/ultrastructure , Tin Compounds/toxicity , Adolescent , Adult , Age Factors , Aged , Cell Division/drug effects , Child , Female , Humans , In Vitro Techniques , Lymphocytes/drug effects , Male , Micronucleus Tests , Middle Aged , Mitotic Index/drug effectsABSTRACT
The frequency of chromosomal aberrations was studied in lymphocytes from karyotypically abnormal patients and normal donors. There was no difference between normal females and Down's syndrome female patients. Male Down's syndrome patients showed a significant increase in aberrations of normal diploid male lymphocytes and a significant difference was observed in male and female Down's syndrome patients. Sex-chromosomally abnormal patients, both X and Y chromosome deficient, showed elevated chromosomal aberrations compared with age and sex-matched normal diploid cells.
Subject(s)
Chromosome Aberrations , Down Syndrome/blood , Klinefelter Syndrome/blood , Lymphocytes/ultrastructure , Turner Syndrome/blood , X Chromosome , Y Chromosome , Adolescent , Adult , Child , Child, Preschool , Down Syndrome/genetics , Female , Humans , Infant , Male , Sex Characteristics , Sex Chromosome Aberrations/bloodABSTRACT
The comparative effects of inorganic and organic tin compounds on chromosomes were assessed in human peripheral blood lymphocytes of healthy donors 20-40 years of age. The endpoints observed were chromosomal abnormalities, sister-chromatid exchanges (SCEs) and cell cycle kinetics. The maximum concentrations which reduced the replicative index by about 50%, of stannic chloride and trimethyltin chloride were 40 micrograms and 2 micrograms per culture respectively. The tested doses were 20 micrograms and 10 micrograms of stannic chloride and 1 microgram and 0.5 microgram of trimethyltin chloride. Both doses of stannic chloride induced a much higher frequency of chromosomal abnormalities (P less than 0.05-P less than 0.001) and a greater reduction of cell cycle kinetics than the corresponding relative doses of trimethyltin chloride. The frequencies of SCEs/cell induced by the latter were, however, slightly higher than those induced by the former.
