Author/Editor		Majdič, Gregor
Title		Odkrivanje enoverižnih konformacijskih polimorfizmov v genu za 17 alfa-hidroksilazo
Type		monografija
Place		Ljubljana
Publisher		Veterinarska fakulteta
Publication year		1994
Volume		str. 57
Language		slo
Abstract		We have searched for mutations in the gene encoding 17alpha hydroxylase, 17,20-lyase using the single stranded conformational polymorphism method. Blood samples were taken from 18 patients with hirsutism, elevated levels of androgene hormones and enhanced responsiveness of the 17alpha-hydroxylase enzyme at the Clinics for endocrinology and metabolic disorders in Ljubljana DNA chains, isolated from the blood samples, were amplified with a polymerase chain reaction and subsequently we checked the presence of mutations in the amplified DNA on the polyacrylamide gel. DNA fragments shown different patterns on the polyacrylamide gel were sequenced as well. In several patients, the method revealed some changes in the structure of the DNA, and in the DNA from three different patients we confirmed the presence of the mutations with sequencing respective DNA molecules. However, the mutations we revealed are presumably not important and cannot contribute to the changed activity of the enzyme. So far, we have not been able to confirm a possible involvement of the enzyme 17alpha-hydroxylase in the pathogenesis of the hirsutism.
Descriptors		HIRSUTISM STEROID 17 ALPHA-MONOOXYGENASE POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL MUTATION