Immunogenetic base of congenital malformations: association of HLA-B27 with spina bifida


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.

DOI: 10.1203/00006450-197901000-00090

Cite this paper

@article{Pietrzyk1979ImmunogeneticBO, title={Immunogenetic base of congenital malformations: association of HLA-B27 with spina bifida}, author={Jacek J. Pietrzyk}, journal={Pediatric Research}, year={1979}, volume={13}, pages={84-84} }