کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3971513 1256768 2010 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Identification of novel missense mutations of GDF9 in Chinese women with polycystic ovary syndrome
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی زنان، زایمان و بهداشت زنان
پیش نمایش صفحه اول مقاله
Identification of novel missense mutations of GDF9 in Chinese women with polycystic ovary syndrome
چکیده انگلیسی

The gene for growth differentiation factor 9 (GDF9) is expressed in human oocytes and has an important function in regulating early follicle growth and fertility. Polycystic ovary syndrome (PCOS) is one of the common defects that causes ovary dysfunction and is linked to aberrant processes in folliculogenesis. Previous studies have discovered several mutations in the screening of GDF9 in premature ovarian failure but none in PCOS. This current study focused on the mutational analysis of the coding region of GDF9 among 216 Chinese PCOS patients. Of the 10 different variants found in this study, five novel missense mutations in GDF9 were discovered namely c.15C>G, c.118T>G, c.133A>G, c.1025A>T and c.1275C>A. The above-mentioned mutations indicate GDF9 may be potentially associated with PCOS patients. As far as is known, this study is the first to provide evidence for such an association.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Reproductive BioMedicine Online - Volume 21, Issue 3, September 2010, Pages 344–348
نویسندگان
, , , , , , , , ,