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Human Genetics Studies in Areas of High Natural Radiation: I. Methodology1

Published online by Cambridge University Press:  01 August 2014

Ademar Freire-Maia
Ademar Freire-Maia*
Affiliation:
Laboratório de Genética Humana da Universidade Federal do Paraná, Brazil
*
Departamento de Genética, Faculdade de Ciências Médicas e Biológicas, Botucatú, Est. São Paulo, Brasil

Summary

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This paper reviews the investigations in the field of the effect of natural radiations on human populations, and discusses a number of problems inherent to retrospective genetic studies of human populations living under high levels of natural radiation. The solutions to face, at least partly, such problems are presented and discussed with special reference to the Brazilian “Projeta Espírito Santo” (PES).

In summary, the main PES subjects presented and discussed are as follows:

1) The data, including about 7000 couples and 40000 pregnancy terminations, have been fully collected and are presently under analysis. They were gathered from January to October 1961 by a team of specially-trained female interviewers employing a standard questionnaire, making home visitations, and being directly supervised by the present author;

2) The reporting has been practically consistent both within and between populations throughout the whole field work. Biased contribution both from the interviewers and the informants was probably negligible. The collection of the data was not subject to any subjective factor related to problems of radiation effect.

3) The interviewers came from the same socio-economic level from which the majority of the people interviewed belong. They were rather familiar with the region and had a perfect understanding of the culture of the people.

4) A checking survey was performed to estimate the reliability of the data, with good results.

5) No propaganda or publicity has been made preceding or during the field work. This reduced the probability that people and the field work team knew o our interest in radiation problems.

6) Although efforts were made to have good descriptions of the abnormalities, and good information on the causes of deaths, unfortunately accurate diagnosis was not possible.

7) Cultural and religious practices probably do not affect differently reproduction in the radioactive and control areas, and socio-economic conditions seem to be roughly similar.

8) It is difficult to know the cumulative radiation dose to the parents of the individuals analyzed (an attempt regarding this point will be made when the data are analyzed). The mean individuals living in the control, intermediate and radioactive areas are probably subject to minimal gonad-doses of about 2, 3, and 7 r in a 30-year period, respectively.

9) No attempt was made to study the influence of radiation on the rate of mutation at specific loci, but an analysis will be made of the genetic characteristics of the populations assumed to be conditioned or influenced by mutations at many loci.

10) As has been duly pointed out in this paper, the “Projeto Espírito Santo” (PES) was not specifically planned to demonstrate, with conclusive results, the genetic effect of natural radiation. Although some positive result is possible, it is highly improbable.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 18 , Issue 2 , April 1969 , pp. 175 - 212
Copyright
Copyright © The International Society for Twin Studies 1969

Footnotes

1

The preliminary draft of this paper has been presented at the Meeting of Investigators in the Field of Studies in Areas of High Natural Radiation, a meeting sponsored by the World Health Organization (WHO), the Brazilian Academy of Sciences, and the University of Brazil (Rio de Janeiro, December 12-15, 1961).

The “Projeto Espírito Santo”, the main subject of this paper, has been sponsored by the National Nuclear Energy Commission of Brazil, which provided a fellowship to the present author, as well as by the Special Service of Public Health Foundation (Brazil) and the Department of Health of the State of Espírito Santo (Brazil). The field work has been performed under the supervision of the Committee on Human Genetics of the Brazilian Society of Genetics.

References

Baird, D. (1945). The influence of social and economic factors on stillbirths and neonatal deaths. J. Obstet. Gynaec. Brit. Comm., 52: 217–234 and 339-366.CrossRefGoogle Scholar
Bender, M. A. (1957). X-ray induced chromosome aberrations in normal diploid human tissue cultures. Science, 126: 974–975.CrossRefGoogle ScholarPubMed
Böök, J. A. (1962). Genetical investigations on the effect of radiation on human cells grown in vitro . Progress Report N. 1, Feb. 21 (Apud Nuclear Science Abstracts, 16: 19).Google Scholar
Böök, J. A., Fraccaro, M., Fredga, K., Lindsten, J. (1962). Radiation-induced chromosome aberrations in human foetal cells grown in vitro . Acta Genet. Med. Gemellol., 11: 356–389.CrossRefGoogle ScholarPubMed
Crow, J. F. (1955). A comparison of fetal and infant deaths in the progeny of radiologists and pathologists. Amer. J. Roentg., 73: 467.Google ScholarPubMed
Crow, J. F., (1957). Possible consequences of an increased mutation rate. Eugen. Quart., 4: 67–80.CrossRefGoogle Scholar
Departamento Estadual de estatística (1948). O Espírito Santo e as Correntes Nacionais de Migração Interna. Comunic. 7, 09, 9 pp.Google Scholar
Departamento Estadual de estatística (1958). O Ensino no Espírito Santo em 1954-1956 (Ensino primario geral), 122.Google Scholar
Departamento Estadual de estatística (1960). Serviços Oficiáis de Saúde Pública 1959, 11.Google Scholar
Departamento Estadual de estatística (1961). Assistencia Hospitalar e Para-hospitalar (instalaçoes para diagnóstico e tratamento médico). 15, 1959.Google Scholar
Freire-Maia, A. (1960). Radiações e taxa de mutação no homem. Rev. Brasil. Biol., 20: 171–182.Google Scholar
Freire-Maia, A. (1961). Preliminary report on a current pilot research project, intended as preliminary to a long range project of human genetics studies in Brazilian areas of high background radiation. WHO/PA/249.61.Google Scholar
Freire-Maia, N. (1957). Effect of inbreeding levels of populations on incidence of hereditary traits due to induced recessive mutation. Effect Rad. Hum. Hered., WHO, 151–156.Google Scholar
Freire-Maia, N. (1963). The load of lethal mutations in White and Negro Brazilian populations. II. Second survey. Acta Genet., 13: 199–225.Google ScholarPubMed
Freire-Maia, N., Freire-Maia, A. (1960). Estimate of the human load of mutations from heterogeneous consanguineous samples. Science, 132: 1317.CrossRefGoogle ScholarPubMed
Freire-Maia, N., Freire-Maia, A., Quelce-Salgado, A. (1960). Prováveis efeitos genéticos das radiaçôes ionizantes ñas familias de médicos brasileiros. Sum. I Simp. Sul Amer. Genet., 12.Google Scholar
Freire-Maia, N., Freire-Maia, A., Quelce-Salgado, A. (1963). The load of lethal mutations in White and Negro Brazilian populations. I. First survey. Acta Genet., 13: 185–198.Google ScholarPubMed
Frota-Pessoa, O. (1959). Plano preliminar de pesquisa sobre os efeitos genéticos das altas radiações de fundo sobre as populações humanas. (Manuscript).Google Scholar
Frota-Pessoa, O., Saldanha, P. H. (1960). The rate of spontaneous sex-linked mutations and the doubling dose in man. Ann. Hum. Genet., 24: 367–373.CrossRefGoogle Scholar
Gentry, J. T., Parkhurst, E., JrBulin, G. V., (1959). An epidemiological study of congenital malformations in New York State. Amer. J. Public Health, 49: 1–22.CrossRefGoogle ScholarPubMed
Gernez-Rieux, C., Bonté, G., Gervois, M., Spy, E. (1962). Enquête sur l'irradiation des populations soumises aux examens radiologiques systématiques du thorax. Bull. Union Internat. Tuberc., 32: 179–186.Google Scholar
Gianferrari, L., Serra, A., Morganti, G., Gualandri, V., Arena, G. C. (1961). Primi risultati di ricerche genetiche su popolazioni umane esposte a piccole dosi continue di radiazioni ionizzanti di origine naturale. (Manuscript).Google Scholar
Instituto Brasileiro de Geografia e Estatística (1951). Recenseamento Geral do Brasil. Parte XIV. Espírito Santo, 393.Google Scholar
Instituto Brasileiro de Geografia e Estatística (1961). VII Recenseamento Geral do Brasil, 1960 — Estado do Espírito Santo — Sinopse Preliminar do Censo Demográfico, 18.Google Scholar
Kitabatake, T. (1960). Sterility, stillbirth, infant death, and sex ratio of offsprings of X-ray workers. Nagoya J. Med. Sci., 23: 227–237 (Apud Nuclear Science Abstracts, 16: 19, 1962).Google Scholar
Kratchman, J., Grahn, D. (1960). Relationships between the geologic environment and mortality from congenital malformation. U. S. Atom. Energ. Comm., Tech. Inform. Serv., 20.Google Scholar
Lawrence, P. A., Chen, W. Y. (1959). A project for studying the geographic distribution of cancer within a single county as related to environmental factors. Amer. J. Public Health, 49: 668–674.CrossRefGoogle Scholar
Lorenz, E. (1944). Radioactivity and lung cancer; a critical review of lung cancer in the miners of Schneeberg and Joachimsthal. J. Nat. Cancer Inst., 5: 1. (Apud Simpson et al, 1959; Progress in Nuclear Energy, Series XII, vol. 1 - Health Physics, 73-90).Google Scholar
Luning, K. G. (1961). Sex-ratio — an unreliable method for estimations of radiation hazards. Manuscript.Google Scholar
Macht, S. H., Lawrence, P. S. (1955). National survey of congenital malformations resulting from exposure to roentgen radiation. Amer. J. Roent. Radium Ther., 73: 442–466.Google ScholarPubMed
Morton, N. E., Crow, J. F., Muller, H. J. (1956). An estimate of the mutational damage in man from data on consanguineous marriages. Proc. Nat. Acad. Sci. USA, 42: 855–863.CrossRefGoogle ScholarPubMed
Neel, J. V., Schull, W. J. (1956). The effect of exposure to the atomic bombs on pregnancy termination in Hiroshima and Nagasaki. Nat. Acad. Sci., Nat. Res. Counc. USA, 241.Google Scholar
Newcombe, H. B. (1962). Genetic effects in populations, with special reference to studies in man, including ABCC results. Radiat. Res., 16: 531–545.CrossRefGoogle ScholarPubMed
Novitski, E., Sandler, L. (1956). The relationship between parental age, birth order and the secondary sex ratio in humans. Ann. Hum. Genet., 21: 123–131.CrossRefGoogle ScholarPubMed
Roser, F. X., Cullen, T. L. (1962a). Environmental radioactivity in high background areas of Brazil. Institute of Physics, Pontifical Catholic University, Rio de Janeiro, 108.Google Scholar
Roser, F. X., Cullen, T. L. (1962 b). Radiation levels in selected regions of Brazil. An. Acad. Brasil. Cienc., 34: 23–35.Google Scholar
Russell, W. L., Russell, L. B. (1959). Radiation-induced genetic damage in mice. Progress in Nuclear Energy Series VI, 2: 179–188.Google ScholarPubMed
Russell, W. L., Russell, L. B., Kelly, E. M. (1960). Dependence of mutation rate on radiation intensity. In “Immediate and Low Level Effects of Ionizing Radiations”, Proc. Sympos., Venice 1959. (Apud Nuclear Science Abstracts, 15: 512).Google Scholar
Sax, N. I., Gabay, J. J. (1960). Public health aspects of environmental radiation. Manuscript.Google Scholar
Schull, W. J., Neel, J. V. (1958). Radiation and the sex ratio in man. Science, 128: 343–348.CrossRefGoogle ScholarPubMed
Spiers, F. W., Burch, P. R. J., Reed, G. W. (1960). Background radiation as the cause of fatal congenital malformation. Intern. J. Rad. Biol., 2: 235–236.Google Scholar
Stevenson, A. C. (1958). Some notes on the possibilities of useful studies of the populations living on the monazite sand beach areas of Kerala and Madras in south-west India. WHO/RAD/2, 40.Google Scholar
Szilard, L. (1960). Dependence of the sex ratio at birth on the age of the father. Nature, 186: 649–650.CrossRefGoogle ScholarPubMed
Tanaka, K., Ohkura, K. (1958). Evidence for genetic effects of radiation in offspring of radiological technicians. Jap. J. Hum. Genet., 3: 135–145.Google Scholar
The Biological Effects of Atomic Radiation (1960). Nat. Acad. Sci. Nat. Res. Counc. USA, 90.Google Scholar
Turpin, R., Lejeune, J., Rethore, M. O. (1956). Etude de la descendance de sujets traités par radiothérapie pelvienne. Proc. Ist. Int. Congr. Hum. Genet., 1: 204–216.Google Scholar
UN Demographic Yearbook (1959). (1952 to 1958 inclusive). Statistical Office of the United Nations. (Apud Wesley, 1960).Google Scholar
UN Scientific Committee on the Effects of Atomic Radiation (1958). Document A/3838, Annex H, 172.Google Scholar
Vital Statistics of the US (1958). (1933 to 1957 inclusive). United States Health Serv., U. S. Printing Office (Apud Wesley, 1960).Google Scholar
Weir, J. A., Haubenstock, H., Beck, S. L. (1958). Absence of differential mortality of sexes in mice. J. Hered., 49: 217–222.CrossRefGoogle Scholar
Wesley, J. P. (1960 a). Background radiation as the cause of fatal congenital malformation. Intern. J. Rad. Biol., 2: 97–118.Google ScholarPubMed
Wesley, J. P. (1960 b). Background radiation as the cause of fatal congenital malformation. Intern. J. Rad. Biol., 2: 333–334.Google ScholarPubMed
WHO Technical Report Series (1959). Effect of Radiation on Human Heredity. Investigations in areas of high natural radiation. Geneva.Google Scholar