一个罕见的家族性NOR异位无遗传学及表型异常  

A rare case of familial nucleolar organizer region ectopia without genetic or phenotypic abnormalities

作　　者：刘倩倩 贾婷 李存玺 刘家恩 窦肇华 胡华莹 Liu Qianqian;Jia Ting;Li Cunxi;Liu Jiaen;Dou Zhaohua;Hu Huaying(Genetic Center,Beijing Jiaen Hospital,Beijing 100191,China;Reproductive Center,Beijing Jiaen Hospital,Beijing 100191,China)

机构地区：[1]北京家恩德运医院遗传中心,北京100191 [2]北京家恩德运医院生殖中心,北京100191

出　　处：《中国组织化学与细胞化学杂志》2024年第2期155-160,共6页Chinese Journal of Histochemistry and Cytochemistry

摘　　要：目的对携带核仁组织区异位的生育障碍女患者家系及其胎儿进行细胞遗传学和分子遗传学分析,探讨其致病性。方法针对生育障碍患者的染色体核型检查,发现一例染色体核型为46,XX,der(15)ins(15;?)(q22.3;?)的女性,对其本人、家系成员以及胎儿,应用高分辨染色体核型分析、核仁组织区AgNO3染色和染色体微阵列分析(CMA)技术,做变异来源追踪及影响分析。结果先证者的未知插入片段性质为核仁组织区,遗传自其有正常生育能力的母亲,核仁组织区异位未导致基因拷贝数异常。结论在本研究家系中,15q22.3区域核仁组织区异位未导致基因拷贝数变异及临床表型异常。Objective To perform cytogenetic and molecular genetic analyses on a family of female infertility patients carrying ectopic nucleolar organizer regions(NORs)and their fetuses,to explore the pathogenicity.Methods Chromosome karyotyping of infertility patients revealed a female with the karyotype 46,XX,der(15)ins(15;?)(q22.3;?).High-resolution chromosome karyotype analysis,nucleolar organizer region AgNO3 staining,and chromosomal microarray analysis(CMA)were applied to her,her family members,and her fetus to trace and analyze the origin and impact of the variation.Results The unknown insertion fragment in the proband,inherited from her mother who has normal fertility,was identified as a nucleolar organizer region.The ectopic NOR did not lead to gene copy number abnormalities.Conclusion In this family,the ectopic nucleolar organizer region at 15q22.3 did not cause gene copy number variations or clinical phenotype abnormalities.

关 键 词：核仁组织区 AgNO3染色 染色体微阵列分析 

分 类 号：R394.1[医药卫生—医学遗传学]