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Molecular Genetic Analysis of AR Gene Among Patients With Androgen Insensitivity Syndrome (CROSBI ID 661820)

Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija

Lekić, Ivan ; Škrlec, Ivana ; Štibi, Sanela ; Wagner, Jasenka Molecular Genetic Analysis of AR Gene Among Patients With Androgen Insensitivity Syndrome // Program and abstracts / Primorac, Dragan ; Schanfield, Moses ; Vuk-Pavlović, Stanimir et al. (ur.). Zagreb: International Society for Applied Biological Sciences (ISABS), 2017

Podaci o odgovornosti

Lekić, Ivan ; Škrlec, Ivana ; Štibi, Sanela ; Wagner, Jasenka

engleski

Molecular Genetic Analysis of AR Gene Among Patients With Androgen Insensitivity Syndrome

Objectives Complete androgen insensitivity syndrome (CAIS) is the most severe manifestation of androgen insensitivity. In classic CAIS, patients are characterized by normal female external genitalia, bilateral intraabdominal or inguinal testis, normal breast development, absent or sparse pubic hair, hypoplastic or absent Wolffian structures and 46, XY karyotype. The aim of this study was to further investigate our patients with clinically suspected CAIS. We tested them for five most common mutations in the AR gene and tried to assess their incidence in the test group. Materials and methods A total of 9 female patients with clinically suspected CAIS, 46, XY karyotype and FISH SRY positive were tested for mutations in AR gene. Among the 100 mutations in AR gene described in the literature, 5 most common mutations were selected for analysis: 3 deletions resulting as frameshift mutations (c.244_248/p. (Thr82fs), c.1041_1062/p.(Gly349fs), c.1421_1422/p. (Glu474fs)) and 2 deletions resulting as complete inactivation of AR gene (c.1750_1752/p. (Phe584del) and exon 2 deletion). We designed specific primer pairs for each mutation. Extracted DNA was amplified using polymerase chain reaction (PCR) and PCR products were analyzed by agarose gel electrophoresis. Results Eight samples had one of the five mutations that were selected for analysis. One sample did not have any of the selected mutations. c.244_248 mutation was found in four samples, c.1421_1422 mutation was found in five samples, exon 2 deletion was found in one sample. c.1041_1062 and c.1750_1752 mutations were not found in our test group. Conclusion By applying very simple and robust laboratory technique, we proved mutations in AR gene and confirmed diagnosis of CAIS in 8 out of 9 tested patients. Nevertheless, more research is needed in order to find out in detail the role and activities of the AR gene and AR protein and the possibility of treating androgen insensitivity syndrome.

AR gene ; complete androgen insensitivity syndrome (CAIS) ; AR protein, molecular genetic analysis

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Podaci o prilogu

CSHG 8

2017.

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objavljeno

978-953-57695-2-1

Podaci o matičnoj publikaciji

Program and abstracts

Primorac, Dragan ; Schanfield, Moses ; Vuk-Pavlović, Stanimir ; Kayser, Manfred ; Ordog, Tamas

Zagreb: International Society for Applied Biological Sciences (ISABS)

Podaci o skupu

10th ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic Lectures in Individualized Medicine

poster

19.06.2017-24.06.2017

Dubrovnik, Hrvatska

Povezanost rada

Kliničke medicinske znanosti, Temeljne medicinske znanosti