eprintid: 11401 rev_number: 6 eprint_status: archive userid: 3 dir: disk0/00/01/14/01 datestamp: 2014-11-06 08:55:13 lastmod: 2014-11-06 08:55:13 status_changed: 2014-11-06 04:30:04 type: article metadata_visibility: show creators_name: Yuni, Ahda title: FOLLICLE STIMULATING HORMONE RECEPTOR Ser680Asn POLYMORPHISM IN WOMEN WITH POLYCYSTIC OVARY ispublished: submitted subjects: BIO14 divisions: fmipa_jurdik_biologi_bio full_text_status: public keywords: polymorphism, FSH receptor gene, exon 10 abstract: Polymorphisms at codon 680 (Ser680Asn) of FSH receptor gene affected the basal FSH levels and sensitivity of FSH receptor to FSH exogenous in women undergoing assisted reproduction program in some ethnics in the world, while it could not proved in others. This study aims to determine the association of polymorphisms Ser680Asn in patients with polycystic ovary (PCO) in Indonesian population. The study involved 30 PCO patients and 30 normal women. Polymorphisms analysis was performed by PCR - RFLP. ELISA was used to detect FSH level. Statistical analysis was done by chi - square and t tests. This study shows the homozygote variant Ser/Ser is significantly different in distribution between patients and normal women where it is more frequent in PCO women. In normal women, the three allelic variant distributed normally. There is no significant different in FSH level in three genotipe between patients and normal women. Conclution: There is a significant different in genotype distribution of FSH receptor gene between PCO patients and normal women for polymorphism at codon 680 but it was not associated with FSH level. date: 2014-05 date_type: submitted publication: Proceeding of International Conference On Research, Implementation And Education Of Mathematics And Sciences 2014 publisher: Yogyakarta State University refereed: TRUE official_url: http://fmipa.uny.ac.id referencetext: Aittomaki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995;82:959-68. Conway GS, Conway E, Walker C, Hoppner W, Gromoll J, Simoni M. Mutation screening and isoform prevalence of the FSHR gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome. Clin Endocrinol (Oxf) 1999;51: 97-9. de Castro F, Ruiz R, Montoro L, Prez-Hernandez D, Sanche Z, Cases Padilla E, Real LM, Ruiz A. Role of follicle stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle stimulating hormone. Fertil Steril 2005;80:571-6. Dolfin E, Guani B, Lussiana C, Mari C, Restagno G, Revelli A. A follicle stimulating hormone receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness exogenous FSH in Italian women. J Assist Reprod Genet 2011;28(10):925-30. Fauser BCJM, Devroey P, Yen SSC. Minimal ovarian stimulation for IVF: Appraisal of potential benefits and drawbacks. Hum Reprod 2005;14:2681-6. Gerasimova T, Thanasoula MN, Zaltas D, Seli E, Sakkas D, Lalioti MD. Identification and in vitro characterization of follicle-stimulating hormone receptor variants associated with abnormal ovarian response to FSH. J Clin Endocrinol Metab 2010;95(2):529-36. Gromoll J, Simoni M, Nieschlag E. An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab 1996;81(4):1367-70. Perez MM, Gromoll J, Behre HM, Gasner C, Nieschlag E, Simoni M. Ovarian response to follicle stimulating hormone (FSH) stimulation depends on the FSH Receptor genotype. J Clin Endocrinol Metab 2000;85:3365-9 Simoni M, Gromoll J, Hoppner W, Kamischke A, Krafft T, Nieschlag E. Mutational analysis of the Follicle Stimulating hormone receptor in Normal and Infertile Men: Identification and characterization of two discrete FSH receptor isoform. J Clin Endocrinol Metab 1999; 84:751-5 Simoni M, Gromoll J, Nieschlag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev 2002; 18(6):739-73. Sudo S, Kudo M, Wada SI, Sato O, Fujimoto S. Genetic and functional analysis of polymorphisms in the human FSH receptor gene. Mol Human Reprod 2002;8:893-9. citation: Yuni, Ahda (2014) FOLLICLE STIMULATING HORMONE RECEPTOR Ser680Asn POLYMORPHISM IN WOMEN WITH POLYCYSTIC OVARY. Proceeding of International Conference On Research, Implementation And Education Of Mathematics And Sciences 2014. (Submitted) document_url: http://eprints.uny.ac.id/11401/1/B26-Yuni%20Ahda.pdf