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

Wenting Wang; Lei Cheng; Jiangtao Zhang; Yingying Qin; Shidou Zhao; Zi-Jiang Chen

doi:10.1016/j.rbmo.2016.08.017

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

Reprod Biomed Online. 2016 Nov;33(5):587-591. doi: 10.1016/j.rbmo.2016.08.017. Epub 2016 Aug 24.

Authors

Wenting Wang¹, Lei Cheng¹, Jiangtao Zhang¹, Yingying Qin¹, Shidou Zhao², Zi-Jiang Chen³

Affiliations

¹ Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan, Shandong, 250021, China.
² Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan, Shandong, 250021, China. Electronic address: shidouzhao@sdu.edu.cn.
³ Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan, Shandong, 250021, China; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Center for Reproductive Medicine, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

PMID: 27599756
DOI: 10.1016/j.rbmo.2016.08.017

Abstract

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.

Keywords: PRIM1; early menopause; premature menopause; premature ovarian failure; primary ovarian insufficiency; variant screening.

MeSH terms

DNA Mutational Analysis
DNA Primase / chemistry
DNA Primase / genetics*
Female
Genetic Predisposition to Disease
Humans
Polymorphism, Single Nucleotide*
Primary Ovarian Insufficiency / genetics*

Substances

DNA Primase
PRIM1 protein, human