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| 巨大舌-脐膨出综合征与基因组印记 | |
| 引用本文： | 朱喜科,路平,卢岩,邵阳阳. 巨大舌-脐膨出综合征与基因组印记[J]. 中华医学遗传学杂志, 2002, 19(1): 79-81 |
| 作者姓名： | 朱喜科 路平 卢岩 邵阳阳 |
| 作者单位： | 1. 中国医科大学第二临床学院中心实验室沈阳,110003 2. 第一临床学院肿瘤科 3. 中山医科大学达安基因诊断中心 |
| 摘 要： | 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 symdrone,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p57^KIP2、IGF2／H19、LIT1在BWS时出现了变异或印记丢失（loss of imprinting,LOI）。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。 |
| 关 键 词： | 基因组印记 巨大舌－脐膨出综合征 p57^KIT2基因 IGF2基因 LIT1基因 |
| 修稿时间： | 2000-12-14 |
Beckwith-Wiedemann syndrome and genomic imprinting |
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| ZHU Xike ,LU Ping ,LU Yan ,SHAO Yangyang . . Beckwith-Wiedemann syndrome and genomic imprinting[J]. Chinese journal of medical genetics, 2002, 19(1): 79-81 | |
| Authors: | ZHU Xike LU Ping LU Yan SHAO Yangyang . |
| Affiliation: | ZHU Xike 1,LU Ping 2,LU Yan 1,SHAO Yangyang 3. 1,2 |
| Abstract: | 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 p57 KIP2 , 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. |
| Keywords: | genomic imprinting Beckwith-Wiedemann syndrome p57 KIP2 gene IGF2 gene LIT1 gene |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |