[HLA haplotypes in families of children with congenital adrenal hyperplasia].
The haplotypes of class I HLA system were determined in a group of 32 children with congenital adrenal hyperplasia and classic form of 21-hydroxylase deficiency. The haplotype frequencies were analyzed and compared to those of the control population. Haplotypes containing the HLA-B-47 antigen were significantly more frequent among the families of patients than among the control population. Among the patients, haplotypes HLA A3-B47-Cw6 and HLA A3-B47-Cwx constituted 50% of all the observed haplotypes with the HLA-B47 antigen. It is stressed that the frequency of homozygotic systems for antigens determined by locus HLA-A (33.34%) and for antigens with locus HLA-B (22.23) were much higher in the affected children.
Turowska-Heydel
D
D
I Klinika Chorób Dzieci Polsko-Amerykańskiego Instytutu Pediatrii Collegium Medicum Uniwersytetu Jagiellońskiego w Krakowie.
Pietrzyk
J J
JJ
Turowski
G
G
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics / Q000276:immunology*; D000328:Adult; D016009:Chi-Square Distribution; D002648:Child; D006239:Haplotypes; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D013255:Steroid 21-Hydroxylase / Q000235:genetics
D015395:Histocompatibility Antigens Class I; D013255:Steroid 21-Hydroxylase