Copy Number Variations in Female Infertility in China

Overview

Journal Balkan J Med Genet

Publisher Sciendo

Specialty Genetics

Date 2019 Sep 17

PMID 31523614

Citations 2

Authors

W Huang

J Wang

M Pang

Q Zhao

L Kong

Y Mao

W Li

B Liang

Affiliations

Soon will be listed here.

Abstract

Copy number variation (CNV) is a main cause of male infertility, yet its influence still remains elusive in that of females. To investigate the correlation between CNV and female infertility, we applied whole-genome CNV analyses by next generation Sequencing (NGS), and analyzed 324 female infertility samples in Xinjiang Province, People's Republic of China. We identified 29 CNVs in total, of which 10 were novel CNVs. We found these CNVs mostly in chromosome X. The CNVs from one sample overlapped the gene that was related to premature ovarian failure (POF). The rest of these CNVs overlapped important functional genes related to neuropathy, brain, skin and retina, and the relationship between these CNVs and fertility needs to be studied further. We also found recurrent CNVs located on Xp22.31 and 22ql 1.21 in five and three cases, respectively. Our study first identified and characterized CNVs (CNVs preference, recurrent CNVs) in female infertility, also provided genetic evidence and references for future study and infertility etiology research.

Citing Articles

Evaluation of Risk Factors and a Gene Panel as a Tool for Unexplained Infertility Diagnosis by Next-Generation Sequencing.

Jasinskiene E, Snieckute I, Galminas I, Zemaitis L, Simutis M, caplinskiene M Medicina (Kaunas). 2025; 61(2).

PMID: 40005388 PMC: 11857236. DOI: 10.3390/medicina61020271.

Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia.

Xin X, Xu P, Wang N, Jiang Y, Zhang J, Li S BMC Med Genomics. 2023; 16(1):213.

PMID: 37684669 PMC: 10485952. DOI: 10.1186/s12920-023-01652-2.

Meiosis interrupted: the genetics of female infertility via meiotic failure.

Biswas L, Tyc K, El Yakoubi W, Morgan K, Xing J, Schindler K Reproduction. 2020; 161(2):R13-R35.

PMID: 33170803 PMC: 7855740. DOI: 10.1530/REP-20-0422.

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