Mutation of Gene in Chinese Han Women with Idiopathic Premature Ovarian Insufficiency

Overview

Journal Int J Clin Exp Pathol

Specialty Pathology

Date 2020 Aug 13

PMID 32782690

Authors

Hong Li

Yingying Cui

Chunyan Liu

Zhiyan Xu

Zhiyi Zhao

Fengnian Rong

Affiliations

Soon will be listed here.

Abstract

Objective: Recent animal studies have demonstrated that the deletion of mouse double minute 2 (Mdm2) in mice leads to premature ovarian insufficiency (POI). The aim of the present study was to investigate whether mutations in the gene contribute to POI in Chinese Han women.

Methods: The coding region of the gene was examined in 54 Chinese Han women with idiopathic POI and 54 Han healthy controls. Two known single nucleotide polymorphisms (SNPs), rs937283 in 5'-UTR and rs2870820 in intron 1, were compared between both POI and control groups.

Results: There were no significant differences in the genotype distributions or allelic frequencies between the POI and control groups. No plausible causative mutations were identified.

Conclusion: Our findings suggest that mutations in the coding region of the gene may not represent a risk factor in the pathogenesis of idiopathic POI among Chinese Han women. Although we fail to confirm that is a disease-causing gene, our study is the first to investigate the role of in POI patients. Further studies with larger sample size from different ethnic populations are warranted.

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