Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure.
Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure.
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DOI：
10.1016/j.fertnstert.2010.12.052
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发表时间：
2011-04
影响因子：
6.7
通讯作者：
Rajkovic, Aleksandar
中科院分区：
文献类型：
--
作者：
McGuire, Megan M.;Bowden, Wayne;Engel, Natalie J.;Ahn, Hyo Won;Kovanci, Ertug;Rajkovic, Aleksandar
关键词：
分析卵巢早衰（POF）妇女的DNA全基因组拷贝数变异（CNVs），重点是新的常染色体微缺失。病例对照遗传关联研究。美国德克萨斯州休斯顿贝勒医学院妇产科。在89例POF患者中，8例发生原发性闭经，81例在40岁之前发生继发性闭经。使用高分辨率单核苷酸多态性（SNP）阵列分析外周血样本的基因组DNA的CNVs。在89例POF病例中鉴定新的CNV，使用基因组变异数据库作为对照人群。SNP芯片共检测到198个常染色体CNV，大小从0.1 Mb到3.4 Mb不等。这些CNVs包括17个大于0.1 Mb的新微重复和7个新微缺失，其中6个包含编码区：8q24.13，10 p15-p14，10q23.31，10q26.3，15q25.2和18q21.32。大多数新的CNV来源于常染色体而不是X染色体。目前的初步研究揭示了新的微缺失/微重复POF。两种新的微缺失导致SYCE 1和CPEB 1的单倍不足，这些基因已知在敲除小鼠模型中导致卵巢衰竭。染色体微阵列可能是一个有用的辅助常规核型分析时，评估妇女与卵巢早衰的基因组失衡。
To analyze DNA from women with premature ovarian failure (POF) for genome-wide copy number variations (CNVs), focusing on novel autosomal microdeletions. Case-control genetic association study. Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA. Of 89 POF patients, eight experienced primary amenorrhea while 81 exhibited secondary amenorrhea prior to age 40. Genomic DNA from peripheral blood samples was analyzed for CNVs using high-resolution single nucleotide polymorphism (SNP) arrays. Identification of novel CNVs in 89 POF cases, using the Database of Genomic Variants as a control population. A total of 198 autosomal CNVs were detected by SNP arrays, ranging in size from 0.1 Mb to 3.4 Mb. These CNVs included seventeen novel microduplications and seven novel microdeletions larger than 0.1 Mb, six of which contained coding regions: 8q24.13, 10p15-p14, 10q23.31, 10q26.3, 15q25.2, and 18q21.32. Most of the novel CNVs were derived from autosomes rather than the X chromosome. The present pilot study revealed novel microdeletions/microduplications in POF. Two novel microdeletions caused haploinsufficiency for SYCE1 and CPEB1, genes known to cause ovarian failure in knockout mouse models. Chromosomal microarrays may be a useful adjunct to conventional karyotyping when evaluating genomic imbalances in women with POF.
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影响因子：
5.8
作者：
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影响因子：
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