单亲二倍体染色体异常的研究进展

摘要

Uniparental disomy (UPD) is an uncommon chromosome condition,in which homologous chromosome or fragment are inherited from only one parent.UPD could lead to various clinical phenotypes due to either homozygosity of recessive mutations or aberrant patterns of imprinting.It cannot be effectively detected by conventional karyotyping,NIPT and CNV-sequence.In clinical work,the misdiagnosis could be usual because of the insufficient understanding of UPD or the limited detecting techniques.Here,we searched the UPD-related literatures and comprehensively summarized the pathophysiological mechanisms,clinical detecting techniques as well as the prevention and treatment of UPD.%单亲二倍体(UPD)是指同源染色体或染色体上的部分片段均来源于双亲中的一方,其发病率较低,但可继发隐性基因纯合突变或基因印迹障碍,从而导致各种各样的临床表型.临床上常用的检测技术,如染色体核型分析、无创产前筛查以及染色体拷贝数目变异等都难以发现UPD的存在.在临床工作中,可能会因对UPD的认识不足或者检测技术有限而导致医者对该类疾病的误诊.通过全面搜集与单亲二倍体相关的研究报道,系统地对其形成机制、致病机制、临床检测技术以及预防和治疗手段进行综述,以便更好地指导基础研究和临床诊治.