母源效应基因变异相关的多基因座印记紊乱及分子机制研究进展
Multi-locus imprinting disturbance caused by maternal effect gene variants and research progress of molecular mechanism
姚亦翠 1郑君2
作者信息
- 1. 扬州大学,江苏扬州 225000;淮安市涟水县人民医院妇产科,江苏淮安 223400
- 2. 淮安市妇幼保健院新生儿疾病筛查科,江苏淮安 223002
- 折叠
摘要
多基因座印记紊乱(MLID)是一种严重的出生缺陷,其与遗传因素的关系尚不明确.近年来研究发现母源效应基因PADI6、NLRP2和NLRP5变异与MLID发生密切相关.本综述首先总结了已报道的MLID患者PADI6、NLRP2和NLRP5基因变异谱,然后将基因型-MLID表型-表观基因型关系进行了分析,最后阐明了母源效应基因变异导致MLID的潜在分子机制,本综述对临床进一步挖掘MLID的遗传学病因和指导家系再生育具有重要意义.
Abstract
Multi-locus imprinting disturbance(MLID)is a serious birth defect and the underlying genetic cause is unclear.In recent years,it has been found that maternal effect gene PADI6,NLRP2 and NLRP5 variants were associated with MLID.This review firstly reviews the gene variant profiles of PADI6,NLRP2 and NLRP5 identified in MLID patients.Then,genotype-MLID phenotypes-epigenotype relationships were analyzed.Finally,the underlying molecular mechanism of mater-nal effect gene variant leading to MLID was elucidated.This review will be of great significance for further exploring the genetic causes of MLID and guiding family reproduction.
关键词
出生缺陷/多基因座印记紊乱/母源效应基因Key words
birth defect/multi-locus imprinting disturbance/maternal effect gene引用本文复制引用
基金项目
淮安市自然科学研究基金项目(HAB202217)
出版年
2024
NETL
NSTL
万方数据