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基因组印记 (genomic imprinting)是不符合孟德尔遗传定律的特殊遗传现象。巨大舌 -脐膨出综合征 (Beckwith- Wiedemann syndrome,BWS)的致病基因位于印记基因聚集的 11p15 .5 ,并且其发病与基因组印记的机理有关 ,印记基因 p5 7KIP2 、IGF2 / H19、L IT1在 BWS时出现了变异或印记丢失 (loss of im-printing,L OI)。作者对最近几年国内外在这方面的最新研究进展进行了综述。这些研究结果为最终阐述BWS的发病机理和基因组印记的遗传学特征与生物学意义提供了重要依据。
Genomic imprinting is a special genetic phenomenon that does not conform to Mendel’s laws of inheritance. The pathogenic gene of the giant tongue-bleb syndrome (Beckwith-Wiedemann syndrome, BWS) is located at 11p15.5 where imprinted genes are clustered and its pathogenesis is related to the mechanism of genomic imprinting. The imprinting genes p5 7KIP2, IGF2 / H19, LIT1 Variation or loss of im-printing (L OI) occurred at BWS. The author summarizes the latest research progress in this area at home and abroad in recent years. These findings provide an important basis for the final elucidation of the pathogenesis of BWS and the genetic characteristics and biological significance of genomic imprinting.