COPY NUMBER VARIATIONS IN
FEMALE INFERTILITY IN CHINA Huang W*, Wang J, Pang M, Zhao Q, Kong L, Mao Y, Li W, Liang B *Corresponding Author: Professor Weidong Huang, Reproductive Medicine Center, XinJiang
JiaYin Hospital, 48 Nanhu North Road, Shuimogou District, Urumchi, Xinjiang Province, 830000,
People’s Republic of China. Tel: +86-2363631402. Fax: +86-9914887187. E-mail: hwd@jynk.com page: 5 download article in pdf format
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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 22q11.21 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.
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