Silver-Russell syndrome in a girl born after in vitro fertilization:: partial hypermethylation at the differentially methylated region of PEG1/MEST
Silver-Russell syndrome in a girl born after in vitro fertilization:: partial hypermethylation at the differentially methylated region of PEG1/MEST
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DOI：
10.1007/s10815-006-9096-3
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发表时间：
2007-04-01
影响因子：
3.1
通讯作者：
Ogata, Tsutomu
中科院分区：
文献类型：
--
作者：
Kagami, Masayo;Nagai, Toshiro;Ogata, Tsutomu
目的：在辅助生殖技术（ART）后出生的受试者中，低出生体重（LBW）的患病率增加，并且在ART受孕的Beckwith-Wiedermann和Angelman综合征患者中经常发现印迹缺陷。因此，我们研究了一位接受抗逆转录病毒治疗后出生的患有银罗素综合征（SRS）的女孩的甲基化模式，这种综合征可能是由母亲7号染色体的单亲二体和H19差异甲基化区（DMR）的低甲基化引起的。方法：利用白细胞基因组DNA检测PEG1/MEST在7q32.2上的DMR CpG二核苷酸上的31个胞嘧啶甲基化状态，以及H19在11p15上的DMR CpG二核苷酸上的23个胞嘧啶甲基化状态。结果：患者31个胞嘧啶中的8个和父亲31个胞嘧啶中的4个在PEG1/MEST-DMR中被高甲基化。在H19-DMR中，患者未发现异常甲基化模式。结论：本研究结果提示，通常具有促生长作用的PEG1/MEST等父系表达基因的高甲基化可能与ART受孕受试者的低体重有关。
Purpose: The prevalence of low birth weight (LBW) is increased in subjects born after assisted reproduction technology (ART), and defective imprinting has frequently been identified in patients with Beckwith-Wiedermann and Angelman syndromes conceived by ART. Thus, we examined methylation pattern in a girl born after ART who had Silver-Russell syndrome (SRS) which can be caused by maternal uniparental disomy for chromosome 7 and by hypomethylation of the differentially methylated region (DMR) of H19.Methods: We examined methylation status of 31 cytosines at the CpG dinucleotides in the DMR of PEG1/MEST on 7q32.2 and 23 cytosines at the CpG dinucleotides in the DMR of H19 on 11p15, using leukocyte genomic DNA.Results: Eight of the 31 cytosines in the patient and four of the 31 cytosines in the father were hypermethylated in the PEG1/MEST-DMR. In the H19-DMR, no abnormal methylation pattern was identified in the patient.Conclusion: The results suggest that hypermethylation of paternally expressed genes including PEG1/MEST, which usually have growth-promoting effects, may be relevant to LBW in subjects conceived by ART.