Mutational analysis of SKP2 and P27 in Chinese Han women with premature ovarian failure

• Published in: Reproductive biomedicine online 2013-07, Vol.27 (1), p.104-106
• Main Authors: Zhao, Zhiyi, Wei, Deying, Mu, Yulan, Qin, Yingying, Li, Guangyu, Cui, Linlin, Chen, Zi-Jiang
• Format: Article
• Language: English
• Subjects: Adult; Asian Continental Ancestry Group - genetics; Cyclin-Dependent Kinase Inhibitor p27 - genetics; DNA Mutational Analysis; Female; Humans; mutation; Obstetrics and Gynecology; P27; Polymorphism, Single Nucleotide; premature ovarian failure; Primary Ovarian Insufficiency - genetics; S-Phase Kinase-Associated Proteins - genetics; single-nucleotide polymorphism; SKP2
• ISSN: 1472-6483; 1472-6491
• DOI: 10.1016/j.rbmo.2013.03.017

Abstract P27 and SKP2, a major regulator of P27, play a crucial role in ovarian function in mice. Both P27-deficient and SKP2-deficient female mice develop premature ovarian failure (POF). The coding regions of SKP2 and P27 were examined in 200 Chinese women with POF and 200 control volunteers. This study is the first to investigate SKP2 in POF. No plausible pathogenic mutations were detected. The results suggest that mutations in SKP2 and P27 are not common in Chinese Han women with POF. P27 and Skp2, a major regulator of P27, play a crucial role in ovarian function in mice. Both P27-deficient and Skp2-deficient female mice develop premature ovarian failure (POF). The coding region of SKP2 and P27 were examined in 200 Chinese women with POF and 200 control volunteers. One known single-nucleotide polymorphism (SNP), rs6175530 in exon 7 of SKP2 , and one known SNP, rs1690837 in exon 1 of P27 , were identified. The present study is the first to discover variants occurring in SKP2 in association with POF. The results suggest that mutations in SKP2 and P27 are not common in Chinese Han women with POF.