Article
Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.
Molecular endocrinology (Baltimore, Md.) - 1 Dec 1991
Biason A, Mantero F, Scaroni C, Simpson E R, Waterman M R
Abstract excerpt
The molecular basis of 17 alpha-hydroxylase/17,20-lyase deficiency syndrome in a 14-yr-old 46,XY Italian patient was investigated by amplification, subcloning, and sequencing of specific exonic sequences from genomic DNA samples. A homozygous mutation, consisting of a 518-basepair (bp) deletion combined with a 469-bp insertion, was identified in the CYP17 gene of the patient. The deletion spans much of exon II,...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Aldehyde-Lyases
- Base Sequence
- Blotting, Southern
- Chromosome Deletion
- Cytochrome P-450 Enzyme System
- DNA
- DNA Transposable Elements
- Exons