The patient with combined deficiency of neuraminidase and 21-hydroxylase.
To investigate the possibility that deletion en block in the HLA region had caused the combined deficiency of neuraminidase and 21-hydroxylase in a female patient, genetic markers on the short arm of chromosome 6 were examined in the patient and her parents, and 21-hydroxylase genes of the patient were analyzed by the Southern blot technique. The affected "extended haplotype" identical by descent might have been recombined at two sites, between HLA-A and C and between HLA-DQ and GLO. This suggests that the neuraminidase gene is mapped between HLA-A and GLO. Southern blot analysis revealed the existence of two 21-hydroxylase genes, so that we found no evidence to support the possibility that deletion en bloc in the HLA class III region had caused the combined deficiency of neuraminidase and 21-hydroxylase.
D000312:Adrenal Hyperplasia, Congenital; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005819:Genetic Markers; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D008297:Male; D009439:Neuraminidase / Q000172:deficiency* / Q000235:genetics; D010375:Pedigree; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D013250:Steroid Hydroxylases / Q000172:deficiency*
D005819:Genetic Markers; D006680:HLA Antigens; D013250:Steroid Hydroxylases; D013255:Steroid 21-Hydroxylase; D009439:Neuraminidase