人类染色体22q11.2微缺失综合征发病机制的研究进展

Advance on Pathological Mechanism of Human Chromsome 22q11.2 Microdeletion Syndrome

22q11缺失综合征(22q11deletionsyndrome,22q11DS)是由染色22q11.21-q11.23缺失引起的遗传性综合征,其临床表现复杂,主要包括心脏、颅面、免疫等系统异常。22q11缺失产生的机制是缺失区域内低拷贝重复序列(1ow-copy-repetitives,LCR22s)之间的不对称重组。本文对其临床表现、发病机制、候选基因克隆等方面的近年进展进行了综述。

A heterozygous deletion within chromsome 22q11.2 （del. 22q11.2） is the genetic basis of the most common interstitial microdeletion syndrome, The clinical findings associated with del. 22q11.2 are extensive and highly variable from patient to patient. Main features include congenital heart defects （CHD）, characteristic facial appearance, immunodeficiency resulting from thymichypoplasia, velopharyngeal dysfunction. Recombination between mismatched homologous elements （LCRs） leads to the deletion of 22q11.2. The clinical features, mechanism and candidate gene cloning of 22q11DS are reviewed.