Cytogenetic studies on causes of congenital heart diseases - Factors associated with an increase in sister chromatid exchanges -

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It has been well known that the frequency of sister chromatid exchanges (SCE) and micronuclei (MN) are indirect, but sensitive indicators of chromosome damages. In the present study, cytogenetic investigations on genetic-environmental interaction in the etiology of congenital heart disease (CHD) were performed by means of the SCE and MN test. The frequencies of SCE and MN in peripheral blood lymphocytes of CHD children were significantly higher compared with those of the reference group. The frequencies of CHD children were not dependent on the digitalis treatment and types of the anomalies. Furthermore, the frequencies of the patient's mothers were also significantly higher compared with those of the reference females. In vitro exposure experiment, agents associated with CHD development such as fertilysine, nydran, LiCl, Trimethadione and Diethystilbesterol could induce an increase in SCE and MN frequencies in peripheral blood lymphocytes.In animal model for pregnant exposure, fertilysine administrated on day 14 gestation could induce a statistically significant increase in the drequency of polychromatic erythrocytes with MN in the fetal liver. On the otherhand corticosterone, a reference agent, could not affect the frequency.The present study points out that the SCE and MN test are useful tools for the cytogenetic investigations of the etiology of CHD.