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摘要: 基因组印记是令一对等位基因仅表达父源或母源基因的一种表观遗传性修饰, 多在胎盘中存在, 对胎盘和胚胎发育至关重要。在对小于胎龄儿发病机制的研究中, 印记基因是不可缺少的一部分。但相关研究争议很大, 尚未得出统一的结论。本文就近些年印记基因与小于胎龄儿的研究予以综述。Abstract: Imprinted genes are epigenetic modifications that make a pair of alleles express only paternal or maternal genes. Most of the imprinted genes exist in the placenta and are very important for placental and embryonic development. Imprinted genes are an indispensable part of the study of the pathogenesis of being small for gestational age. However, relevant research is controversial and has not yet reached a common conclusion. In this paper, recent studies on the relation ofimprinted genes and being small for gestational age are reviewed.
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Key words:
- imprinted genes /
- small for gestational age
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1 可能与SGA/IUGR相关的印记基因
基因 部位 研究样本(例) SGA/IUGR 甲基化程度 基因表达量 IGF2(父) 脐带血 SGA:69, AGA:471[11] ↓ - SGA:33, AGA:475[18] ↓ - 胎盘 IUGR:14, 非IUGR:15[21] - ↓ SGA:24, AGA:20[14] - ↓ SGA:130, AGA:387, LGA:160[4] 无关 无关 SGA:33, AGA:51, LGA:22[26] - 无关 早孕期绒毛膜 SGA:50, AGA:145, LGA:65[22] - ↓ 外周血 SGA:80, AGA:73[12] ↓ - H19(母) 脐带血 SGA:69, AGA:471[11] 无关 - SGA:39, AGA:49[7] ↑ - 胎盘 SGA:130, AGA:387, LGA:160[4] 无关 无关 SGA:33, AGA:51, LGA:22[26] - 无关 SGA:24, AGA:20[14] - 无关 MEST(父) 胎盘 SGA:130, AGA:387, LGA:160[4] ↑ ↓ IUGR:14, 非IUGR:15[21] 无关 ↑ SGA:33, AGA:51, LGA:22[26] - 无关 脐带血 SGA:39, AGA:49[7] 无关 - PHLDA2(母) 胎盘 SGA:130, AGA:387, LGA:160[4] 无关 无关 IUGR:14, 非IUGR:15[21] 无关 ↓ SGA:33, AGA:51, LGA:22[26] - 无关 SGA:36, AGA:41[24] - 无关 早孕期绒毛膜 SGA:50, AGA:145, LGA:65[22] - 无关 MEG3(母) 胎盘 SGA:130, AGA:387, LGA:160[4] 无关 无关，但表达增加与LGA相关 IUGR:14, 非IUGR:15[21] - ↓ SGA:33, AGA:51, LGA:22[26] - 无关 DLK1(父) 胎盘 SGA:130, AGA:387, LGA:160[4] 无关 无关，但表达增加与LGA相关 SGA:33, AGA:51, LGA:22[26] - 无关 NNAT(父) 胎盘 SGA:130, AGA:387, LGA:160[4] 无关 ↓ SGA:33, AGA:51, LGA:22[26] - 无关 GNAS 胎盘 IUGR:14, 非IUGR:15[21] - ↓ SGA:130, AGA:387, LGA:160[4] 无关 无关 PLAGL1(父) 胎盘 IUGR:14, 非IUGR:15[21] - ↓ SGA:33, AGA:51, LGA:22[26] - 无关 SGA:130, AGA:387, LGA:160[4] 无关 无关 CDKN1C(母) 胎盘 IUGR:14, 非IUGR:15[21] - ↓ SGA:130, AGA:387, LGA:160[4] 无关 无关 SLC22A18(母) 胎盘 SGA:33, AGA:51, LGA:22[26] - ↓ SGA:130, AGA:387, LGA:160[4] 无关 无关 ZNF331(父) 胎盘 SGA:33, AGA:51, LGA:22[26] - ↑ SGA:130, AGA:387, LGA:160[4] 无关 无关 SGA：小于胎龄儿；IUGR：宫内发育受限；AGA：适于胎龄儿；LGA：大于胎龄儿；↑：增加；↓：降低；-：未测 
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