Artificial insemination by donors: the need for genetic screening: late-infantile GM2-gangliosidosis resulting from this technique

Several phenotypes are known; they are determined by at least two genetic loci (alpha and beta) and by multiple alleles at each locus.3 The most common allele, (HEXalpha2 ), occurs with a frequency of about 0.003 in the general population and about 0.037 in the Ashkenazi Jewish population.4 This increased frequency in a defined population has permitted carrier testing and prenatal diagnosis, with a dramatic decrease4 in the incidence of classical infantile Tay-Sachs disease, which has the genotype (HEXalpha2 , HEXalpha2 , HEXbeta1 , HEXbeta1 ). Both the mother and donor could not have carried (HEXalpha2 ) because the child had the phenotype of late-infantile GM2-gangliosidosis rather than classical infantile Tay-Sachs disease (HEXalpha2 , HEXalpha2 , HEXbeta1 , HEXbeta1 ). Since the mother had no known Ashkenazi ancestor, it seemed likely that she carried (HEXalpha3 ) or another alpha-locus allele different from (HEXalpha2 ), that the unknown sperm donor carried the common (HEXalpha2 ) allele, and that the patient's genotype was a compound such as (HEXalpha2 , HEXalpha3 , HEXbeta1 , HEXbeta1 ). Discussion There is no reason why this type of problem should not occur again or become more frequent as the use of such insemination increases. [...]it is possible that some families who use artificial insemination to overcome infertility will have children with genetic disease. Suggested Measures for Evaluation of Disease Risks in Participants in Artificial Insemination.* [Image Omitted: See PDF] From the departments of Neurology and Pediatrics, Columbia University College of Physicians and Surgeons, New York.