Variation analysis of PRIM1 gene in Chinese patients with primary ovarian insufficiency

REPRODUCTIVE BIOMEDICINE ONLINE

卷:33

Article

Wang, Wenting¹  Cheng, Lei¹  Zhang, Jiangtao¹  Qin, Yingying¹  Zhao, Shidou¹  Chen, Zi-Jiang^1,2 

[1] Shandong Univ, Shandong Prov Hosp,Shandong Prov Key Lab Reprod M, Ctr Reprod Med,Key Lab Reprod Endocrinol,Minist E, Natl Res Ctr Assisted Reprod Technol & Reprod Gen, 324 Jingwu Rd, Jinan 250021, Shandong, Peoples R China

[2] Shanghai Jiao Tong Univ, Sch Med, Renji Hosp, Ctr Reprod Med,Shanghai Key Lab Assisted Reprod &, Shanghai, Peoples R China

关键词: primary ovarian insufficiency;    premature ovarian failure;    premature menopause;    early menopause;    PRIM1;    variant screening;   

DOI  :  10.1016/j.rbmo.2016.08.017

来源: Elsevier

【 摘 要 】

Insights into common genetic susceptibility between primary ovarian insufficiency (POI) and natural or early menopause have delivered an innovative way of assessing the genetic mechanisms involved in POI. PRIM1 plays a crucial role in DNA replication by synthesizing RNA primers for Okazaki fragments. It is closely associated with age at natural menopause, early menopause and POI in European women. In this study, we aimed to investigate whether mutations in PRIM1 contribute to POI in Chinese women. All exons and exon-intron boundaries of PRIM1 gene were sequenced in 192 Han Chinese women with non-syndromic POI. No plausible mutations were identified. The results suggest that the perturbations in PRIM1 gene are not a common explanation for POI in Chinese women. (C) 2016 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

【 授权许可】

Free