Publication

Abstract : In a genetic epidemiological and fertility survey among 70,000 inhabitants in a high-background radiation region (HBRR) and normal radiation region (NRR) in Kerala, India, 985 persons were found to have heritable anomalies. Suggested etiologies for the anomalies were chromosomal and Mendelian, 15 percent; multifactorial, 60 percent; and congenital, 25 percent. There was a statistically significant increase of Down syndrome, autosomal dominant anomalies, and multifactorial diseases and an insignificant increase of autosomal recessive and X-linked recessive anomalies in the HBRR. The total fertility rate was 3.85 per couple; 9 percent of live-born children were reported dead. The rate of untoward pregnancy outcome—death of the offspring or presence of an anomaly in a living child—was 6.4 percent among the unrelated couples in the NRR, with one spouse born outside the area of current residence (“migrant”). Considering this as the base, the excess relative risks in the other groups are: “NRR-nonmigrant,” 35 percent; “HBRR-nonmigrant,” 69 percent; “NRR-consanguineous,” 76 percent; and “NBRR-consanguineous,” 157 percent. Ionizing radiation, consanguinity, and nearness of birthplace of the spouse are risk factors for the death of offspring and for anomalies. The higher risk among the “nonmigrant” couples may be due to geographic inbreeding. The findings are suggestive of an autosomal recessive etiology for the majority of the multifactorial anomalies.