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
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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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