Zhen Xiu-mei, Sun Yi-min, Qiao Jie, Li Rong, Wang Li-na, Liu Ping
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China.
National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China.
Beijing Da Xue Xue Bao Yi Xue Ban. 2013 Dec 18;45(6):841-7.
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.
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.
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.
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.
通过全基因组拷贝数变异（CNV）研究中国原发性卵巢功能不全（POI）女性的遗传病因，重点关注新发现的常染色体微缺失和微重复。
对30名中国POI患者进行全基因组CNV分析，采用Affymetrix SNP 6.0芯片。并对30名POI患者和另外40名POI患者中选定的存在微缺失和微重复的编码区域进一步进行定量PCR（qPCR）。
通过SNP芯片共鉴定出101个CNV，大小从0.1MB到5.6MB不等。这些CNV包括8个新发现的微重复和12个新发现的微缺失。然后通过qPCR验证了在染色体区域（10q26.12、10q26.3、2p16.3和6p26）鉴定出的4个微缺失以及包含编码区域（20p12.3和7p22.2）的2个微重复。
我们报告了高分辨率罕见CNV分析，揭示了中国POI患者中的新微缺失/微重复。在选定并验证的编码区域中，我们发现包括SYCE1、CYP2E1、NRXN1、PARK2和CARD11在内的五个基因可能参与生殖，因此是POI的潜在候选基因。
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