The screening of HELQ gene in Chinese patients with premature ovarian failure

详细信息    查看全文

• 作者：Wenting Wang^aAuthor Vitae ; Shidou Zhao^a ; Lili Zhuang^b ; Weiping Li^c ; Yingying Qin^a ; ^{qinyingying1006@163.com" class="auth_mail" title="E-mail the corresponding author} ; Zi-Jiang Chen^a
• 关键词：genetic variants ; HELQ ; premature ovarian failure (POF) ; single nucleotide polymorphism (SNP)
• 刊名：Reproductive BioMedicine Online
• 出版年：2015
• 出版时间：October 2015
• 年：2015
• 卷：31
• 期：4
• 页码：573-576
• 全文大小：412 K

文摘

HELQ, a member of DNA repair gene family, is an enzyme required for DNA strands cross-links repair and closely related to age at natural menopause. It also possesses a critical role in the germ cell maintenance, and loss of HELQ gene leads to subfertility. The aim of the present study was to investigate whether mutations in HELQ contribute to premature ovarian failure (POF) in Chinese women. A cohort of 192 patients with POF was enrolled. All exons and exon–intron boundaries of genomic DNA were amplified and sequenced. Six known single-nucleotide polymorphisms were identified in both POF and control groups, including rs1494961, rs13141136, rs7665103, rs11099600, rs2047210 and rs12645412. No mutation was identified. Our study indicates for the first time that mutations in the coding sequence of the HELQ gene may not be responsible for premature ovarian failure in Chinese Han population.