经 array comparative genome hybridization 分析鉴定的复杂 X 染色体重排与卵巢早衰女性相关。
Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.
机构信息
Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.
出版信息
Fertil Steril. 2011 Jun;95(7):2433.e9-15. doi: 10.1016/j.fertnstert.2011.03.082. Epub 2011 Apr 29.
OBJECTIVE
To investigate candidate genes affected by a complex X chromosome rearrangement that may play a role in the diagnosis of spontaneous premature ovarian insufficiency (POI).
DESIGN
Prospective cytogenetic analysis, fluorescence in situ hybridization (FISH) analysis and oligonucleotide array comparative genome hybridization (CGH).
SETTING
University medical center.
PATIENT(S): A 36-year-old woman with POI found to have a highly rearrangement X chromosome.
INTERVENTION(S): FISH analysis and oligonucleotide array CGH.
MAIN OUTCOME MEASURE(S): Oligonucleotide microarray analysis to detect duplicated, deleted, or translocated regions of the X chromosome.
RESULT(S): Complex rearrangement of the X chromosome involving ≥12 breakpoints resulting in two deletions, four duplications, and several intrachromosomal translocations. At least 13 genes with possible relevance to POI may be affected by the rearrangement.
CONCLUSION(S): Array CGH can reveal candidate genes that may have essential roles in fertility and POI.
目的
研究受复杂 X 染色体重排影响的候选基因，这些基因可能在自发性卵巢早衰（POI）的诊断中发挥作用。
设计
前瞻性细胞遗传学分析、荧光原位杂交（FISH）分析和寡核苷酸微阵列比较基因组杂交（CGH）。
地点
大学医学中心。
患者
一名 36 岁的 POI 女性，发现其 X 染色体高度重排。
干预措施
FISH 分析和寡核苷酸微阵列 CGH。
主要观察指标
寡核苷酸微阵列分析检测 X 染色体的重复、缺失或易位区域。
结果
X 染色体的复杂重排涉及≥12 个断点，导致两个缺失、四个重复和几个染色体内部易位。至少有 13 个与 POI 可能相关的基因可能受到重排的影响。
结论
CGH 阵列可以揭示可能对生育和 POI 具有重要作用的候选基因。
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