Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency.
DNAs from unrelated healthy individuals and unrelated individuals affected with 21-hydroxylase deficiency (congenital and late-onset adrenal hyperplasia) were digested with seven restriction enzymes and hybridized with a cDNA probe specific for human 21-hydroxylase genes. Associations were found between restriction fragments and the two forms of the disease: The late onset form is associated with a double dose of a 14 kb fragment generated by EcoRI and with a triple dose of a 3.2 kb fragment generated by Taq I in patients with HLA B14 haplotypes; The classical congenital form is negatively associated with the 14 kb fragment and with a 3.7 kb fragment generated by Taq I in patients with HLA Bw47 haplotypes. A 3.2 kb Taq I fragment is negatively associated with the HLA B8 haplotypes. The other five enzymes tested give no polymorphisms or polymorphisms without correlation with the two forms of the disease.
D000312:Adrenal Hyperplasia, Congenital; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI; D015252:Deoxyribonucleases, Type II Site-Specific; D008040:Genetic Linkage; D005819:Genetic Markers; D006680:HLA Antigens / Q000235:genetics*; D015235:HLA-B Antigens; D006801:Humans; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D013250:Steroid Hydroxylases / Q000172:deficiency*
D005819:Genetic Markers; D006680:HLA Antigens; D015235:HLA-B Antigens; D013250:Steroid Hydroxylases; D013255:Steroid 21-Hydroxylase; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases