光学基因组图谱技术在染色体结构变异检测中的应用  

Application of optical genome mapping technology for the detection of chromosomal structural variations

作　　者：张志强 何姝婧[1] 李小兰[1] 程宽 魏月娥 任姿[1] Zhang Zhiqiang;He Shujing;Li Xiaolan;Cheng Kuan;Wei Yue′e;Ren Zi(Center of Reproductive Medicine,the Sixth Affiliated Hospital of Sun Yat-sen University,Guangdong Engineering Technology Research Center for Fertility Preservation,Guangzhou,Guangdong 510655,China)

机构地区：[1]中山大学附属第六医院生殖医学中心,广东省生育力保存工程技术研究中心,广州510655

出　　处：《中华医学遗传学杂志》2024年第3期257-265,共9页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2022YFC2703200)。

摘　　要：目的探讨光学基因组图谱(OGM)技术在检测环状染色体、平衡易位、插入易位等染色体结构异常中的应用。方法收集2022年1月至10月因染色体结构异常在中山大学附属第六医院生殖医学中心接受胚胎植入前遗传学检测并进行OGM和染色体微阵列检测的4例患者的资料进行回顾性分析,同时对部分患者样本采用荧光原位杂交技术进行验证。结果1例疑似为平衡易位的患者通过OGM检测出平衡易位,并对断裂点进行了精确定位;2例染色体插入易位的患者中,1例3号染色体插入6号染色体的患者通过OGM检测获得了比核型分析更精细的断裂点位置并确定了染色体片段的插入方向,另1例8号染色体插入Y染色体的患者未能检测到染色体插入的信号;1例环状染色体嵌合体患者未检测到成环信号。结论OGM技术准确检测出4例患者是否存在染色体异常,为家系遗传咨询提供依据。Objective To assess the value of optical genome mapping(OGM)for the detection of chromosomal structural abnormalities including ring chromosomes,balanced translocations,and insertional translocations.Methods Clinical data of four patients who underwent pre-implantation genetic testing concurrently with OGM and chromosomal microarray analysis at the Center of Reproductive Medicine of the Sixth Affiliated Hospital of Sun Yat-sen University from January to October 2022 due to chromosomal structural abnormalities were selected as the study subjects.Some of the results were verified by multi-color fluorescence in situ hybridization.Results The OGM has successfully detected a balanced translocation and fine mapped the breakpoints in a patient.Among two patients with insertional translocations,OGM has provided more refined breakpoint locations than karyotyping analysis in a patient who had chromosome 3 inserted into chromosome 6 and determined the direction of the inserted fragment.However,OGM has failed to detect the chromosomal abnormalit in a patient with chromosome 8 inserted into the Y chromosome.It has also failed to detect circular signals in a patient with ring chromosome mosaicism.Conclusion OGM has successfully detected chromosomal structural variations in the four patients and provided assistance for their diagnosis.

关 键 词：染色体结构变异 光学基因组图谱 平衡易位 插入易位 环状染色体 

分 类 号：R440[医药卫生—诊断学] R714.8[医药卫生—临床医学]