Avtor/Urednik		Ferk, Polona
Naslov		Nekateri genetski dejavniki pri bolnicah s sindromom policističnih jajčnikov
Tip		monografija
Kraj izdaje		Ljubljana
Založnik		Univerza v Ljubljani, Medicinska fakulteta
Leto izdaje		2006
Obseg		str. 87
Jezik		slo
Abstrakt		Inltnduction. Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age, with menstrual cycle abnormalities, anovulatory infertility, hyperandrogenemia end/or hyperandrogenism, insulin resistance, hyperinsulinemia and obesity as main characteristics. Bassed on familial clustering of cases, genetic background for PCOS has been proposed. Regarding an extremely complex biochemical and clinical presentation of PCOS, its pathogenesis is suggested to be multifactorial and oligogenic. Numerous PCOS candidate genes have been investigated; however, the key PCOS genes have yet to be identified. Hypotheses. The aim of the present association study was to investigate six genetic polymorphisms in six different PCOS candidate genes for their possible association with the presence of PCOS and for chair possible association with specific phenotypic characteristics of PCOS. The following polymorphisms were analysed: a microsatellite polymorphism (TTTTA)„ in the promoter of the t `)`PIIA gene, a microsatellite polymorphism (CAG)„ in the exon 1 of the AR gene, a microsatellite polymorphism (TAAAA)„ in the promoter of the SHBG gene, a minisatellite polymorphism in the promoter of the INS gene, a single nucleotide polymorphism (SNP) Apal at 3'- end of the IGF2 gene and a SNP -108 C > T in the promoter of the PONI gene. Pellettts and methods. The study group consisted of 118 Slovene patienTS with PCOS, with specific phenotypic characteristics, and the control group consisted of 108 healthy Slovene women. In all women, molecular generic analyses for the genetic polymorphisms were performed and serum LH, FSIi, total testosterone (TT), SHBG, fasting glucose and fasting insulin concentrations were determined. (Abstract truncated at 2000 characters)
Deskriptorji		POLYCYSTIC OVARY SYNDROME POLYMORPHISM (GENETICS) MICROSATELLITE REPEATS POLYMORPHISM, RESTRICTION FRAGMENT LENGTH LH FSH TESTOSTERONE INSULIN POLYMERASE CHAIN REACTION