[Classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Genetic considerations in light of personal studies].
Long-term immunogenetic studies on HLA and GLOI systems in the families of probands with classic 21-hydroxylase related adrenal hyperplasia served as a basis for a complex analysis. The analyzed factors included the phenotype and haplotype incidence, HLA-ABC homozygosity, and -in informational families-the strength of genetic linkage for recombinant fractions (lod score). The results suggest the usefulness of routine determinations of class I HLA antigens in families of patients with 21-hydroxylase deficiency.
Turowska-Heydel
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I Kliniki Chorób Dzieci Polsko Amerykańskiego Instytutu Pediatril Wydziału Lekarskiego Collegium Medicum UJ w Krakowie.
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000276:immunology; D016009:Chi-Square Distribution; D006239:Haplotypes; D015395:Histocompatibility Antigens Class I / Q000032:analysis / Q000235:genetics; D006801:Humans; D008126:Lod Score; D010641:Phenotype
D015395:Histocompatibility Antigens Class I
Klasyczna postać wrodzonego przerostu kory nadnerczy w niedoborze 21-hydroksylazy. Rozwazania genetyczne w świetle badań własnych.