Open AccessCopy number variation in female infertility and candidate gene screening for common infertility-related diseases
Author(s) -
Zhainagul Kozhabek,
Min Pang,
Qiongzhen Zhao,
Jiangyan Yi,
Wei-dong Huang
Publication year - 2021
Publication title -
ķaraġandy universitetìnìṇ habaršysy. biologiâ, medicina, geografiâ seriâsy/k̦araġandy universitetìnìn̦ habaršysy. biologiâ, medicina, geografiâ seriâsy
Language(s) - English
Resource type - Journals
eISSN - 2663-5003
pISSN - 2518-7201
DOI - 10.31489/2021bmg3/73-79
Subject(s) - copy number variation , infertility , biology , genetics , candidate gene , structural variation , gene , female infertility , chromosome , genome , pregnancy
To investigate the correlation between the genome copy number variation and female infertility we collected 3962 female infertility samples and analyzed copy number variation (CNV) using high-throughput sequencing technologies. In this study 269 CNVs were found in 246 samples, 17 of which were new CNVs. The occurrence of CNVs was mostly found in X chromosome, and some candidate genes related to female infertility were screened. We also found some high frequency CNVs, which contain important functional genes. This study filled the blank of CNV research on female infertility and discovered the characteristics of CNV (CNV preference, recurrent CNV), which provided genetic reference for female infertility.