染色体嵌合体在基因检测中的研究进展  

Advances in chromosome chimeras in gene detection

作　　者：段福慧(综述) 杨锡彤 罗雪颜 李思颖 王光明(审校) DUAN Fu-hui;YANG Xi-tong;LUO Xue-yan;LI Si-ying;WANG Guang-ming(Gene Testing Center,the First Affiliated Hospital of Dali University,Dali 671000,Yunnan,CHINA)

机构地区：[1]大理大学第一附属医院基因检测中心,云南大理671000

出　　处：《海南医学》2023年第13期1956-1959,共4页Hainan Medical Journal

基　　金：云南省自然科学基金[编号:2019FH001-(020)];云南省教育厅科学研究基金项目(编号:2020J0590);云南省大理市科技计划项目(编号:2022KBG028)。

摘　　要：染色体嵌合体是指个体中存在两个或多个染色体不同的细胞系,这些细胞系来源于单个受精卵。染色体嵌合体标本来源困难、临床结局多样导致临床结果解释和检测困难,是基因研究的难点之一。本文将对嵌合体的形成机制、致病性以及基因检测技术等进行综述,为临床治疗和产前遗传咨询提供更好的诊疗依据。Chromosomal mosaicism refers to the presence of two or more chromosomally distinct cell lines in an individual,derived from a single fertilized egg.Chromosomal chimeras are difficult to interpret and detect because of the difficulty in the origin of specimens and the diversity of clinical outcomes,which is one of the difficulties in gene research.This article will review the formation mechanism,pathogenic mechanism,and gene detection technology of chimeras,so as to provide better diagnosis and treatment basis for clinical treatment and prenatal genetic counseling.

关 键 词：染色体嵌合体 基因检测 染色体核型分析 无创产前检测 荧光原位杂交 微阵列分析技术 二代测序技术 

分 类 号：R394[医药卫生—医学遗传学]