Inactivating Mutation screening of Exon 6 and Exon 10E of FSHR gene in women with Polycystic Ovarian Syndrome in Vellore population
| Autor: | V G Abilash, Vaikhari Kale, Yogamaya D Prabhu, Nishu Sekar, Madhura Sapre, Kaviyarasi Renu, Shalaka S Ramgir |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Infertility endocrine system medicine.medical_specialty Candidate gene education.field_of_study Mutation 030219 obstetrics & reproductive medicine endocrine system diseases Hyperandrogenism Population Biology medicine.disease medicine.disease_cause Polycystic ovary female genital diseases and pregnancy complications 03 medical and health sciences Exon 030104 developmental biology 0302 clinical medicine Endocrinology Internal medicine medicine education Gene |
| Zdroj: | IOP Conference Series: Materials Science and Engineering. 263:022035 |
| ISSN: | 1757-899X 1757-8981 |
| DOI: | 10.1088/1757-899x/263/2/022035 |
| Popis: | Polycystic Ovarian syndrome (PCOS) is a major cause of infertility in females of reproducing age and is typified by oligo-anovulation, hyperandrogenism, hirsutism and polycystic ovaries. FSHR gene located on chromosome 2 p21 is responsible for the normal follicular development and any deletion or mutation in the gene affects the interaction of FSH with its receptor. Thus, it becomes the candidate gene for PCOS study. Inactivating mutation in FSHR gene limits the receptor's function by creating a complete block, changing the receptor-ligand complex or the basic hormone signal transduction.To screen the inactivating mutations in Exon 6 and Exon 10E of FSHR gene in women diagnosed with PCOS.PCR-RFLP analysis indicated that there were no inactivating mutations found in Exon 6 and Exon 10E. Variations in hormone levels were seen amongst the PCOS patients. There were no inactivating mutations found in FSHR gene of the women diagnosed with PCOS according to the Rotterdam criteria in Vellore population. |
| Databáze: | OpenAIRE |
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