Mutational analysis of human bone morphogenetic protein 15 in Chinese women with polycystic ovary syndrome

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• 作者：Jingjing Liu^a ;   ; ¹ ; Binbin Wang^b ;   ; ¹ ; Zhaolian Wei^a ; Ping Zhou^a ; Yuping Zu^a ; Sirui Zhou^b ;   ; ^c ; Qiaolian Wen^b ;   ; ^c ; Jing Wang^b ;   ; ^c ; Yunxia Cao^a ;   ; ^{caoyunxia6@126.com} ; Xu Ma^b ;   ; ^c ;   ; ^d ;   ; ^{genetic@263.net.cn}
• 刊名：Metabolism
• 出版年：2011
• 出版时间：November 2011
• 年：2011
• 卷：60
• 期：11
• 页码：1511-1514
• 全文大小：543 K

文摘

Polycystic ovary syndrome (PCOS) is one of the common defects that cause ovary dysfunction and link to the aberrant process of folliculogenesis. Bone morphogenetic protein 15 (BMP15) is expressed in human oocytes and functions importantly to regulate early follicle growth and fertility. Previous studies have discovered several mutations in the screening of BMP15 in premature ovarian failure but none in PCOS. In this current study, we focused on the mutational analysis of the coding region of BMP15 among 216 Chinese PCOS patients. Five novel missense mutations in BMP15 were discovered, namely, c.34C>G, c.109G>C, c.169C>G, c.288G>C, and c.598C>T. These results are the first to indicate that BMP15 gene mutations may be potentially associated with PCOS patients.