<abstract xmlns="http://www.w3.org/1999/xhtml"><p>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 <italic>POF1B</italic> 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.</p></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 POF1B 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.

Copy number variations in female infertility in China

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"Copy number variations in female infertility in China"}

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...

Copy number variations in female infertility in China

Article Category: Original Article

Pubblicato online: 28 ago 2019

Pagine: 5 - 10

DOI: https://doi.org/10.2478/bjmg-2019-0005

Parole chiave
Copy number variations (CNVs), Female infertility, Next generation sequencing (NGS), Recurrent CNVs, Novel CNVs

© 2019 Huang W, Wang J, Pang M, Zhao Q, Kong L, Mao Y, Li W, Liang Β, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Copy number variations in female infertility in China

Article Category: Original Article

Pubblicato online: 28 ago 2019

Pagine: 5 - 10

DOI: https://doi.org/10.2478/bjmg-2019-0005

Parole chiaveCopy number variations (CNVs), Female infertility, Next generation sequencing (NGS), Recurrent CNVs, Novel CNVs

© 2019 Huang W, Wang J, Pang M, Zhao Q, Kong L, Mao Y, Li W, Liang Β, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
Copy number variations (CNVs), Female infertility, Next generation sequencing (NGS), Recurrent CNVs, Novel CNVs