mutation analysis of exon1 of bone morphogenetic protein-15 gene in iranian patients with polycystic ovarian syndrome
نویسندگان
چکیده
background: with the prevalence of 6-10%, polycystic ovarian syndrome (pcos) is considered the most common endocrinological disorder affecting women in their reproductive age. it has been suggested that genetic factors participate in the development of pcos. follicular development has been considered as one of the impaired processes in pcos. bone morphogenetic protein-15 (bmp-15) gene is a candidate gene in follicular development and its variants may play role in pathogenesis of pcos. objective: to investigate whether bmp-15 gene mutations are present in iranian women with pcos. materials and methods: in this cross-sectional study 5 ml venous blood samples was taken from 70 pcos women referring to afzalipour hospital, kerman university of medical sciences, kerman, iran, between january to december 2014. genomic dna was extracted from the blood sample by salting out method. then a set of pcr reactions for exon1 of bmp-15 gene was performed using specific primers followed by genotyping with direct sequencing. results: two different polymorphisms were found in the gene under study. in total 20 patients (28.6%) were heterozygote (c/g), and 2 patients (2.86%) were homozygous (g/g) for c.-9c>g in 5´utr promoter region of bmp-15 gene (rs3810682). in addition, in the coding region of exon1, three patients (4.3%) were heterozygote (g/a) for c.a308g (rs41308602). two pcos patients (2.86%) appeared to have both c.-9c>g (c/g) and c.a308g (g/a) variants simultaneously. conclusion: our research detected two polymorphisms of bmp-15 gene among pcos patients, indicating that even though it cannot be concluded that variants of bmp-15 gene are the principal cause of polycystic ovarian syndrome; they could be involved in pathogenic process in development of pcos.
منابع مشابه
Mutation analysis of exon1 of bone morphogenetic protein-15 gene in Iranian patients with polycystic ovarian syndrome
BACKGROUND With the prevalence of 6-10%, polycystic ovarian syndrome (PCOS) is considered the most common endocrinological disorder affecting women in their reproductive age. It has been suggested that genetic factors participate in the development of PCOS. Follicular development has been considered as one of the impaired processes in PCOS. Bone morphogenetic protein-15 (BMP-15) gene is a candi...
متن کاملP-207: Pharmacogenetic Study of CYP19A1 (Aromatase) in Ovarian Induction in Iranian Polycystic Ovarian Syndrome Patients
Background: Hyper-androgenemia is one of the main clinical features of polycystic ovarian syndrome (PCOS). Letrozol is an aromatase inhibitor drug, which is co-administered with gonadotropins in most cases of PCOS, to improve ovulation. Aromatase has a critical role in catalyzing the conversion of androgens to estrogens and is responsible for keeping the homeostatic balance between them. Hence ...
متن کاملMutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria
Background: Phenylketonuria as the most common genetic metabolic disorder is the result of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore the phenylalanine hydroxylase gene mutation status of Iranian phenylketonuria patients. Methods: Blood samples were collected from 30 patients, and hot spot areas of the phenylalanine hydroxylase gene, in...
متن کاملpolymorphism of exon 2 of bone morphogenetic protein 15 gene (bmp15) and its relationship with litter size in najdi goat
this study was conducted to detect polymorphism of gene bmp15, a member of transforming growthfactor β (tgfβ) family which has a crucial role in controlling the ovarian follicles development,ovulation rate and fertility. samples were randomly selected from 91 najdi goats in 3 geographicallocations, northwest, southeast and center of khuzestan province. after dna extraction, amplification of235 ...
متن کاملمنابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
international journal of reproductive biomedicineجلد ۱۴، شماره ۸، صفحات ۵۲۷-۰
میزبانی شده توسط پلتفرم ابری doprax.com
copyright © 2015-2023