PubMed HealthSearch

Biomedical subjects

A Katsantoni

Publications and source records attributed to A Katsantoni.

10 recordsLinked to original sources

The effects of severe mixed environmental pollution on human chromosomes.

Cytogenetic studies were conducted on healthy young mothers, shortly after child birth, in two residential areas each with an approximate population of 20,000, situated about 25 km from Athens, Greece. One of the areas, Elefsis, is subject to severe mixed industrial pollution, and the other, Koropi, is relatively free of pollution. Chromosomal aberrations were investigated in 16 women from each area in 72 hour lymphocyte cultures treated with gentian violet to enhance any chromosomal instability induced by the pollution. The women were of a comparable socioeconomic level, aged between 20 and 31 years, and with no history of factors associated with mutagenesis. Venous blood samples were taken from the two groups and processed concurrently. The slides were coded and examined independently by two observers, who were unaware of the source of the samples. A total of 100 cells was examined on each sample. The two observers obtained highly comparable results. Women from Elefsis had an average of 0.42 anomalies per cell and those from Koropi had 0.39. The absence of a statistically significant difference between the two groups clearly shows that the severe mixed environmental pollution of Elefsis has no significant visible effect on human chromosomes in most residents. However, two Elefsis women had abnormal results and could be at risk. Their presence is not sufficient to raise significantly their group's average, but the induction by pollution of an increased rate of chromosomal anomalies in only a few people at risk could account for the known association between urban residence and cancer mortality.

Adult

The cytogenetic and clinical implications of a ring chromosome 2.

Ring chromosome formation can occur without deletion, through the abnormal pairing of the palindromic DNA base sequences thought to make up the telomeres. The normal occurrence of sister chromatid exchanges within a ring constantly produces further chromosomal anomalies that are less likely to survive when the chromosome involved is large and/or its aneuploidy incompatible with life. These abnormal products (abbreviated pro) were only found in the present case after two or more cell cycles in lymphocyte cultures. Their elimination in vivo implies a very high cellular death rate and an enormous waste of metabolism that should have the same phenotypic effects no matter what chromosome is involved. These phenotypic anomalies form a ring syndrome that can be clinically recognized and consists of severe growth failure, mental retardation and a pleasant personality. The syndrome is usually masked by the more severe abnormalities produced by the deletions present in most cases of ring chromosomes.

Abnormalities, Multiple

The X chromosome in Duchenne's muscular dystrophy.

A search for deficiencies on one X chromosome of four obligatory and four probable heterozygotes for Duchenne's muscular dystrophy was unsuccessful. This probably excludes deficiencies larger than half the width of any band or interband.

Child