17号染色体单亲二体研究进展

Research advances of chromosome 17 uniparental disomy

摘要:

单亲二体(UPD)是指同源染色体或染色体上的片段来源于双亲中的一方,因隐性遗传致病基因纯合表达、基因印记等导致各种临床表型。该文通过对17号染色体的UPD的发病机制、临床检测技术及临床特征的综述,旨在为今后开展循证的产前诊断及遗传咨询提供理论依据。

Abstract:

Uniparental disomy is an uncommon chromosome condition,in which homologous chromosome or segments are inherited from only one parent.Whole chromosomal and segmental uniparental disomy(UPD)is one of the causes of imprinting disorder and other recessive disorders.The objective of this article was to represent pathogenesis of 17 uniparental disomy,detection techniques and clinical manifestations to provide reference for prenatal diagnosis and genetic ounseling.