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2019, vol. 38, br. 1, str. 13-21
Nove veze između varijante BRCA1 c.181 t>g (rs28897672) i rizika od karcinoma jajnika kod saudijskih žena
aKing Saud University, College of Science, Department of Biochemistry, Riyadh, Saudi Arabia
bKing Saud Bin Abdul Aziz University for Health Sciences, College of Science and Health Professions, Department of Basic Sciences, Riyadh, Saudi Arabia
cKing Saud University, College of Medicine, Department of Obs/Gyn, Riyadh, Saudi Arabia
dKing Saud University, College of Science, Department of Biochemistry, Genome Research Chair, Riyadh, Saudi Arabia
eKing Saud University, College of Medicine, Department of Pathology, Riyadh, Saudi Arabia
fKing Saud University, Center for Science and Medical Studies for Girls, Central Laboratory, Riyadh, Saudi Arabia
Ključne reči: karcinom jajnika; BRCA1; polimorfizam; Saudijska Arabija; c.181 T> G
Sažetak
Uvod: Mutacije u genu BRCA1 dovedene su u vezu s karcinomom jajnika i kod žena sa visokim rizikom može se vršiti testiranje BRCA. Ova studija osmišljena je s namerom da se odredi učestalost tri varijante polimorfizama pojedinačnih nukleotida (SNP) u genu BRCA1 i ekspresija BRCA1 kod Saudijki sa karcinomom jajnika. Metode: Nivoi ekspresije mRNK gena BRCA1 proučavani su u 10 uzoraka tkiva s karcinomom jajnika i 10 zdravih tkiva jajnika pomoću kvantitativne reakcije lanca polimeraze u realnom vremenu (qPCR). Ova studija je takođe obuhvatila 28 žena koje su imale karcinom jajnika i bile uspešno operisane i 90 zdravih žena bez istorije karcinoma. Uzorci krvi uzeti su u EDTA epruvete i korišćeni za ekstrahovanje DNK. Genotipizacija je izvršena pomoću seta Taqman® SNP Genotyping putem RT-PCR. Varijante uključene u istragu bile su c.871 T> C (rs799917), c.1040 G > A (rs4986852), c.181 T> G (rs28897672) u genu BRCA1. Rezultati: Varijanta c.181 T> G (rs28897672) pokazala je značajno različite učestalosti genotipova alela između pacijenata i kontrolnih subjekata (p = 0,002, odnosno 0,02). Genotip TG imao je značajnu protektivnu ulogu (OR = 0,36, p = 0,024). Pokazalo se da je ekspresija mRNK gena BRCA1 bila niska u tkivima s karcinomom jajnika. Zaključak: Ova studija je pokazala da je c.181 T> G u genima BRCA1 povezan s razvojem karcinoma jajnika kod saudijskih žena. Potrebne su nove studije kako bi se otkrilo koji bi još polimorfizmi (SNP) mogli biti povezani s karcinomom jajnika i kako bi se razumeli mehanizmi uključeni u smanjenje ekspresije gena BRCA1 u tkivima s karcinomom jajnika.
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O članku

jezik rada: engleski
vrsta rada: izvorni naučni članak
PMC ID: PMC6298454
DOI: 10.2478/jomb-2018-0037
objavljen u SCIndeksu: 04.02.2020.

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