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: 1
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RESULTS
Classification Statistics and Clinical Phenotypes
of Infertility. One-hundred and thirty of the 324 infertile
females had primary infertility, and the average age of
infertility was 32.2 ± 4.6, and infertile mean years were 4.3
± 3.2. There were 194 patients with secondary infertility,
with the average age at 34.8 ± 5.7, and the infertile mean
years were 3.5 ± 3.2. Primary infertility and secondary
infertility showed significant differences in average age
and infertile mean years, but there were no significant
difference in CNV variation rates between the primary
infertility group and secondary infertility group [χ2 test
with 95% confidence interval (95% CI)]. (No significant
difference, data not shown.)
The results of Copy Number Variations. After filtration
using DGV, we detected 29 CNVs in 29 samples
(Table 1). All the chromosome abnormalities were CNVs,
no abnormal chromosome numbers were found. As shown
in Figure 1, CNVs were distributed in different regions of
the chromosomes. Copy number variations occurred 10
times on chromosome X with the highest frequency. One
sample has duplication CNV on Xq21.1-q21.2 involved in
POF1B, this patient had two miscarriages and one spontaneous
abortion. The duplication CNV (9q22.32-q22.33)
containing the HSD17B3 gene was found in another sample,
this patient had normal sex hormones and a normal
uterus. According to DGV, 10 novel CNVs were screened
out. In this study, we found five recurring CNVs located
on Xp22.31, and three times on 22q11.21.
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