巨大舌-脐膨出综合征与基因组印记

Beckwith-Wiedemann syndrome and genomic imprinting

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 hereditary phenomenon out of line with Mendel's law. It is known that the causal gene of Beckwith-Wiedemann syndrome (BWS) is located in 11p15. 5 of chromosome where imprinting clusters, that the mechanism of BWS is associated with genomic imprinting, and that the mutation or loss of imprinting (LOI) of p57KIP2, IGF2/H19 and LIT1 occurs in patients with BWS. This paper reviews the researches and progress in this field at home and abroad, including the present authors' research. The results of these researches have provided an important basis for the final explanation of the mechanism of BWS and the genetic feature and biological significance of genomic imprinting.