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

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

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Program and abstracts / Primorac, Dragan ; Schanfield, Moses ; Vuk-Pavlović, Stanimir ; Kayser, Manfred ; Ordog, Tamas - Zagreb : International Society for Applied Biological Sciences (ISABS), 2017

ISBN
978-953-57695-2-1

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

Mjesto i datum
Dubrovnik, Hrvatska, 19.06.2017. - 23.06.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

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

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

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