Генетичний аналіз поліморфізму Val89Leu гена SRD5α2 та гена SRY у пацієнтів з порушенням диференціації статі
Aim. 5α-reductase is an enzyme that converts testosterone to 5α-dihydrotestosterone (DHT) in peripheral tissues.
 Deficiency of the enzyme 5α-reductase causes a disturbance of the formation of the external genitalia before birth. The
 polymorphism Val89Leu of SRD5α2 gene is associate...
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| Published in: | Фактори експериментальної еволюції організмів |
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| Date: | 2016 |
| Main Authors: | , , , , |
| Format: | Article |
| Language: | Ukrainian |
| Published: |
Інститут молекулярної біології і генетики НАН України
2016
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| Subjects: | |
| Online Access: | https://nasplib.isofts.kiev.ua/handle/123456789/177647 |
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| Journal Title: | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| Cite this: | 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 // Фактори експериментальної еволюції організмів: Зб. наук. пр. — 2016. — Т. 18. — С. 253-256. — Бібліогр.: 18 назв. — укр. |
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Digital Library of Periodicals of National Academy of Sciences of Ukraine| Summary: | Aim. 5α-reductase is an enzyme that converts testosterone to 5α-dihydrotestosterone (DHT) in peripheral tissues.
Deficiency of the enzyme 5α-reductase causes a disturbance of the formation of the external genitalia before birth. The
polymorphism Val89Leu of SRD5α2 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 SRD5α2 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, SRD5α2 gene.
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| ISSN: | 2219-3782 |