Abstract
A random sample of 46 families with single and multiple cases of spina bifida has been selected from families referred to Institute Pediatrics for genetic counselling.This sample constituted a group of 92 parents and 102 offsprings /41 normal,48 with spina bifida and 13 with spina bifida occulta/.Routine HLA typing was perfomed in the parents and their children.Foreach case,13 HLA specifities from locus A and 15 from locus B were determined.Segregation analysis in families showed excellent agreement with the expected values.HLA gene frequencies in the affected children as compared with a control population of 240 normal adults,revealed significantly higher frequency for HLA-B27 allele:Chi square = 11.958, p /corrected for the number of alleles/ < 0.027.A significant relative risk of spina bifida development for a given HLA-B27 antigen was 2,7. In view of the presented results a routine HLA typing might be recommended for genetic counselling as a new tool for identification of high risk families.
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Pietrzyk, J. Immunogenetic base of congenital malformations: association of HLA-B27 with spina bifida. Pediatr Res 13, 84 (1979). https://doi.org/10.1203/00006450-197901000-00090
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DOI: https://doi.org/10.1203/00006450-197901000-00090