【摘 要】
：
人类胚胎干细胞(hESC)具有倾斜性X染色体失活(XCI)状态.这些表观遗传异常细胞的拷贝数变异(CNV),杂合性丢失(LOH)或单核苷酸变异(SNVs)情况并不清楚,并且基因组异常是否
【机 构】
：
广东省产科重大疾病重点实验室 广东省普通高校生殖与遗传重点实验室 广州医科大学附属第三医院 广东广州510150
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人类胚胎干细胞(hESC)具有倾斜性X染色体失活(XCI)状态.这些表观遗传异常细胞的拷贝数变异(CNV),杂合性丢失(LOH)或单核苷酸变异(SNVs)情况并不清楚,并且基因组异常是否会影响hESC的XCI状态也不明确.在本研究中,对3株倾斜性失活hESC,三株随机XCI及两株雄性hESC在不同代次使用高分辨率基因组微阵列芯片观察CNV和LOH水平.全外显子测序则用于分析潜在的致病性SNVs.在倾斜性hESC中平均有17.6个CNV和5.3个LOH,与随机hESC类似.五个复发性CNV区域只在倾斜性hESC鉴定出,但都是多态性CNV.除了一个不含基因的CNV外,倾斜性hESC的X染色体中没有发现另外的CNV.虽然在两株hESC中观察到XCI状态由随机变为偏斜,但XCI变化前后并没有发现显著的CNV差异.SNV分析表明,在LOH区域中大多数基因维持正常.杂合等位基因有三种类型的表达模式,倾斜hESC杂合致病性SNVs更青睐表达野生型等位基因.总之,在本研究中,我们并没有发现倾斜和随机hESC存在CNV和LOH的差异.致病性SNVs在倾斜hESC中更易表达野生型等位基因可能有利于减轻对hESC的不利影响.
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