中国卵巢早衰妇女全基因组染色体拷贝数变异分析

Genome-wide copy number scan in Chinese patients with premature ovarian failure

目的：探讨卵巢早衰（premature ovarian failure， POF）患者染色体拷贝数的变异。方法：采用病例-对照研究方法对全基因组染色体拷贝数变异进行分析，用Affymetrix SNP6.0 芯片对30例POF患者和30例对照者进行对比研究。用定量PCR对芯片结果进行了验证，并在另外40例 POF 患者中进一步确证。结果：芯片共发现101个片段大小在0.1~5.6 MB的微缺失和扩增，包括8个新扩增和12个新的微缺失。实时定量PCR证实了位于染色体10q26.12，10q26.3，2p16.3和6p26的4个微缺失和位于染色体20p12.3和7p22.2的2个扩增。结论：本研究揭示了中国妇女POF 患者基因组拷贝数变异（copy number variants，CNV）的变化，在这些编码区发现有5个基因SYCE1,CYP2E1,NRXN1,PARK2和CARD11可能与POF有关。

To investigate genetic causes in Chinese women with primary ovarian insufficiency （POI） for genome-wide copy number variations （CNVs）, focusing on novel autosomal microdeletions and microduplications. Methods： Genome-wide CNVs analysis using Affymetrix SNP 6.0 array was carried out in 30 Chinese POI subjects. And quantitative PCR （qPCR） was further performed for selected coding regions with microdeletions and microduplications in 30 POI subjects and another 40 POI cases. Results： A total of 101 CNVs were identified by SNP arrays, ranging in size from 0.1 MB to 5.6 MB. These CNVs included 8 novel microduplications and 12 novel microdeletions. Then 4 microdeletions identified in chromosomal regions （10q26.12, 10q26.3, 2p16.3, and 6p26） and 2 microduplications which contained the coding regions （20p12.3 and 7p22.2） were verified by qPCR. Conclusion： We report the high-resolution rare CNV analysis, revealing novel microdeletions/microduplications in Chinese POI patients. In the selected verified coding regions, we find that the five genes including SYCE1, CYP2E1, NRXN1, PARK2 and CARD11 may be involved in reproduction, thus representing potential candidate genes in POI.