1994 Volume 17 Issue 2 Pages 143-147
17α-hydroxylase/17, 20-lyase deficiency is an autosomal recessive disorder, which causes mineralcorticoid hypertension. Here we report two Japanese siblings, male and female, affected by 17α- hydrOxylase/17, 20-lyase deficiency. To clarify the molecular mechanism of the enzyme deficiency, we isolated the gene encoding 17α-hydroxylase/17, 20-lyase (CYP17) by polymerase chain reaction (PCR) from these patients, and compared its nucleotide sequences with those of normal CYP17. We confirmed only one difference: a TTC of codon 53 or 54 was deleted in the exon 1 of CYP17 of the propositus, resulting in deletion of phenylalanine at either 53 or 54. Dot blot hybridization of the amplified DNA with allele-specific oligonucleotide probes showed that the two patients were homozygous and their parents were heterozygous for this mutation. The reduced activity of 17α-hydroxylase/17, 20-lyase was probably caused by this mutation. (Hypertens Res 1994; 17: 143-147)
