Генетичний аналіз поліморфізму Val89Leu гена SRD5α2 та гена SRY у пацієнтів з порушенням диференціації статі

  • М. Я. Тиркус
  • Г. В. Макух
  • М. М. Тенета
  • В. І. Шуварська
  • Д. В. Заставна


Aim. 5α-reductase is an enzyme that converts testosterone to 5α-dihydrotestosterone (DHT) in peripheral tissues. Deficiency of the enzyme 5A-reductase causes a disturbance of the formation of the external genitalia before birth. The polymorphism Val89Leu of SRD5a2 gene is associated with decreased activity of the enzyme 5-alpha-reductase-2. Methods. DNA from probands blood samples was isolated using a modified salting out method. Microdeletions of Y chromosome AZF regionand SRY gene were analyzed using two multiplex PCR. The PCR products were digested with the restriction enzyme Rsa I and analyzed by electrophoresis in a 2 % agarose gel. Results. In 20 newborn children with violation of sex differentiation was set male and found no genetic disorders in region of AZF Y-chromosome. Among men in the our study group homozygous genotype LeuLeu (CC) polymorphic loci Val89Leu of SRD5б2 gene was found in 45 %, which is associated with a deficiency of 5-alpha reductase. Conclusions. The results of the study polymorphic loci Val89Leu of 5-alpha-reductase-2 gene in patients with violation of sex differentiation showed that homozygous genotype LeuLeu (CC) polymorphic loci Val89Leu be a probable genetic differentiation factors violation sex.

Keywords: Y-chromosome, polymorphism, sex determination, SRD5A2 gene.