Lege Artis Medicinae

[Hungarian surveillance of indicator conditions caused by germinal mutations]

ELEK Csaba1, CZEIZEL Endre2

AUGUST 28, 1991

Lege Artis Medicinae - 1991;1(14)

[Authors report the results of a ten-year study of genetic epidemiology to detect the phenotypic manifestations of germinal mutations. Three types of indicator conditions (expected to reflect appearance of new environmental mutagens) have been monitored continouusly between 1980–1989. Cases were registered in the Hungarian Congenital Abnormality Registry. The indicator conditions were: (1) sentinel anomalies as indicators of germinal dominant gene mutations. Birth prevalence of such 15 anomalies was 3.8/10,000 total births. 90% of them proved to be sporadic thus 31 new mutations in 10^5 total births was detected with no significant increase during the study period. (2) Down syndrome as an indicator of germinal numerical chromosomal mutations. Birth prevalence of it was 11.7/10,000 total births that means 110 new mutations in 10^5 total births. There was no significant change in occurrence of Down syndrome during the study period. (3) Unidentified multiple congenital abnor malities evaluated by the help of „pairwise analysis of component congenital abnormalities" method. In 1985 there was a highly significant increase in the occurrence of congenital abnormality pairs. It appeared one year before the nuclear powerplant accident in Chernobyl, the Soviet Union, and after that no significant change was detected in prevalence of indicator conditions. Cause of this has remained unexplained. ]

AFFILIATIONS

  1. tudományos munkatárs Országos Közegészségügyi Intézet, Humángenetikai és Teratológiai Osztály WHO "Örökletes Ártalmak Társadalmi Megelőzése" Együttműködési Központ
  2. osztályvezető Országos Közegészségügyi Intézet, Humángenetikai és Teratológiai Osztály WHO "Örökletes Ártalmak Társadalmi Megelőzése" Együttműködési Központ

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