Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure

Shizhen Su; Ting Han; Bowen Ma; Weiping Li; Yingying Qin; Shidou Zhao; Zi-Jiang Chen

doi:10.1016/j.rbmo.2015.12.003

Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure

Reprod Biomed Online. 2016 Mar;32(3):329-33. doi: 10.1016/j.rbmo.2015.12.003. Epub 2015 Dec 29.

Authors

Shizhen Su¹, Ting Han¹, Bowen Ma², Weiping Li³, Yingying Qin¹, Shidou Zhao⁴, Zi-Jiang Chen¹

Affiliations

¹ Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan, 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.
² Biological Sciences, College of Liberal Arts and Science, University of Connecticut, 2131 Hillside Rd, Storrs, CT 06269, USA.
³ Department of Obstetrics and Gynecology, Renji Hospital Affiliated to Shanghai Jiaotong University, Shanghai, China.
⁴ Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan, 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China. Electronic address: [email protected].

PMID: 26774993
DOI: 10.1016/j.rbmo.2015.12.003

Abstract

Exonuclease 1 (EXO1) is required for both DNA repair and meiosis. Inactivation of EXO1 gene in mice leads to infertility. This study aimed to investigate whether variants in the EXO1 gene contribute to human premature ovarian failure (POF). The coding region of EXO1 was sequenced in 186 Han Chinese patients with non-syndromic POF. No plausible mutation was detected. The results suggest that mutations in the coding region of EXO1 may not be responsible for POF in Han Chinese women.

Keywords: EXO1; premature ovarian failure; single-nucleotide polymorphism; variant screening.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Asian People / genetics
China
DNA Mutational Analysis
DNA Repair Enzymes / chemistry
DNA Repair Enzymes / genetics*
Exodeoxyribonucleases / chemistry
Exodeoxyribonucleases / genetics*
Female
Gene Frequency
Genotype
Humans
Polymorphism, Single Nucleotide*
Primary Ovarian Insufficiency / genetics*

Substances

EXO1 protein, human
Exodeoxyribonucleases
DNA Repair Enzymes