罕见的17号染色体臂内反向插入一个家系的光学基因组图谱分析  

Optical genome mapping analysis of a Chinese pedigree with a rare chromosome 17 paracentric inversion insertion

作　　者：王昊 杨扬 杨南南 汪燕 李华伟 胡文胜 Wang Hao;Yang Yang;Yang Nannan;Wang Yan;Li Huawei;Hu Wensheng(Prenatal Diagnosis Center,Hangzhou Women′s Hospital,Hangzhou,Zhejiang 310008,China)

机构地区：[1]杭州市妇产科医院产前诊断中心,杭州310008

出　　处：《中华医学遗传学杂志》2023年第6期727-732,共6页Chinese Journal of Medical Genetics

基　　金：浙江省重点研发计划(2021C03030)。

摘　　要：目的应用光学基因组图谱(OGM)技术探讨1个罕见的17号染色体臂内反向插入家系的遗传学特征。方法选取2021年10月在杭州市妇产科医院产前诊断中心就诊的1例血清学筛查高风险孕妇及其家系成员作为研究对象。用染色体G显带核型分析、荧光原位杂交(FISH)、单核苷酸多态性微阵列(SNP array)、OGM等技术对该家系的17号染色体异常进行综合分析和验证。结果羊水染色体核型分析及SNP array检测提示胎儿染色体17q23q25区存在11 Mb重复。孕妇核型分析提示17号染色体结构异常,但SNP array检测未见异常,OGM检测提示其染色体17q23q25区存在臂内反向插入,经FISH检测确认。胎儿父亲核型未见异常。结论胎儿的染色体17q23q25区重复衍生自其母亲17号染色体的反向插入。OGM技术对于鉴定平衡性染色体结构异常具有一定的优势。Objective To carry out optical genome mapping(OGM)for a Chinese pedigree with a rare paracentric reverse insertion of chromosome 17.Methods A high-risk pregnant woman identified at the Prenatal Diagnosis Center of Hangzhou Women′s Hospital in October 2021 and her family members were selected as the study subjects.Chromosome G banding analysis,fluorescence in situ hybridization(FISH),single nucleotide polymorphism array(SNP array)and OGM were applied to verify the balanced structural abnormality of chromosome 17 in the pedigree.Results Chromosomal karyotyping analysis and SNP array assay have identified a duplication of 17q23q25 in the fetus.Karyotyping analysis of the pregnant woman showed that the structure of chromosome 17 was abnormal,whilst SNP array has detected no abnormality.OGM revealed that the woman has carried a paracentric reverse insertion,which was confirmed by FISH.The karyotype of her husband was normal.Conclusion The duplication of 17q23q25 in the fetus has derived from a paracentric reverse insertion of chromosome 17 in its mother.OGM has the advantage for delineating balanced chromosome structural abnormalities.

关 键 词：染色体畸变 17号染色体 光学基因组图谱 荧光原位杂交 单核苷酸多态性微阵列 胎儿 

分 类 号：R596.1[医药卫生—内科学]