17p13.3微缺失/微重复与胎儿临床表型差异的遗传学分析——附五例报告  

Genetic analysis of 17p13.3 microdeletion/microduplication and clinical phenotype difference of 5 fetuses

作　　者：杨滢[1] 朱湘玉[1] 王景美[2] 荆秀娟[1] 顾雷雷[1] 刘威[1] 王皖骏[1] 王亚平[3] 李洁[1] YANG Ying;ZHU Xiangyu;WANG Jingmei;JING Xiujuan;GU Leilei;LIU Wei;WANG Wanjun;WANG Yaping;LI Jie(Department of Obstetrics and Gynecology, Nanjing Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing 210008, China;Department of Pathology, Nanjing Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing 210008, China;Department of Medical Genetics, Nanjing University Medical School, Nanjing 210093, China)

机构地区：[1]南京大学医学院附属南京鼓楼医院妇产科,江苏南京210008 [2]南京大学医学院附属南京鼓楼医院病理科,江苏南京210008 [3]南京大学医学院医学遗传学研究室,江苏南京210093

出　　处：《东南大学学报（医学版）》2021年第4期435-441,共7页Journal of Southeast University(Medical Science Edition)

基　　金：国家自然科学基金资助项目(81901474);江苏省妇幼健康重点学科项目(FXK201747)。

摘　　要：目的:探讨17p13.3区域微缺失/微重复胎儿遗传学异常与临床表型的关系。方法:应用染色体微阵列分析(CMA)方法检测5例胎儿样本的基因组拷贝数改变;采用实时荧光定量聚合酶链反应(q-PCR)检测技术及荧光原位杂交技术(FISH)检测判断胎儿17p13.3区域异常的亲本来源。结果:5例胎儿在染色体17p13.1-13.3区域存在不同程度的微缺失/微重复,病例1和病例4的17p13.3区域异常是新发突变,病例2和病例3为母源性,病例5的异常来源于染色体t(10;17)平衡易位的父亲。结论:基于17p13.3片段中所含关键基因的不同,病例1为17p13.3微重复综合征Ⅱ型,病例2为临床意义不明(VOUS),病例3、4和5均为17p13.3区域DNA拷贝数异常关联的米勒·迪克综合征(MDS),病例3的母亲也为MDS。17p13.3区域微缺失/微重复综合征患儿表型的严重程度与其异常的DNA片段所含有的关键基因直接相关。Objective:To investigate the relationship between genetic abnormalities and fetal phenotypes in 17p13.3 region.Methods:Five fetal samples were detected by chromosome microarray analysis(CMA),and the parental origin of 17p13.3 abnormalities in fetus was determined by real-time quantitative polymerase chain reaction(q-PCR)and metaphase fluorescence in situ hybridization(FISH).Results:There were microdeletions/microduplications in chromosome 17p13.3 in these 5 fetuses.17p13.3 abnormalities in fetus 1 and 4 were de novo,in fetus 2 and 3 were maternal and in fetus 5 were originated from the father with t(7;10).Conclusion:According to the different key genes contained in 17p13.3,fetus 1 is a patient with 17p13.3 microduplication syndrome typeⅡ,fetus 2 is variants of unknown significance(VOUS),fetus 3,4 and 5 are patients with Miller-Dieker syndrome(MDS),and the mother of fetus 3 is also a MDS patient.Fetal phenotype of 17p13.3 microdeletion/microduplication is directly related with the key genes involved in abnormalities.

关 键 词：17p13.3微重复综合征 米勒·迪克综合征 染色体微阵列分析 实时荧光定量聚合酶链反应 荧光原位杂交技术 

分 类 号：R596[医药卫生—内科学]