QF-PCR分析双重非整倍体胎儿染色体不分离发生的亲源性及时期  

Analysis of prenatal origin and cell stage of non-disjunction of double aneuploidy by QF-PCR

作　　者：李发涛 汤雪薇 袁思敏 韩瑾 李焱 LI Fatao;TANG Xuewei;YUAN Simin;HAN Jin;LI Yan(Prenatal Diagnosis Center,Guangzhou Women and Children’s Medical Center,Guangzhou,Guangdong 510623,China)

机构地区：[1]广州市妇女儿童医疗中心产前诊断中心,广东广州510623

出　　处：《中国优生与遗传杂志》2021年第10期1475-1479,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨双重非整倍体胎儿染色体不分离发生的亲源性及时期。方法对一例B超检查提示为多发畸形胎儿,行介入性绒毛膜穿刺取绒毛样本,应用荧光定量聚合酶链反应(QF-PCR)和染色体核型分析技术确诊为mos46,X,+13[92]/47,XY,+13[8]。对比胎儿父母的外周血样本的QF-PCR检测结果,分析胎儿两种染色体不分离发生的亲源性和时期。结果经染色体核型分析及QF-PCR检测确诊为1例mos46,X,+13[92]/47,XY,+13[8]双重染色体非整倍体嵌合胎儿;13号染色体不分离发生在卵细胞减数分裂Ⅰ期,性染色体不分离发生在合子后有丝分裂期。结论QF-PCR技术可以检测及分析46,X,+13等罕见双重非整倍体的染色体不分离发生的亲源性及时期,为双重非整倍体的染色体不分离形成机制研究提供数据。Objective To explore the origin and cell stage of non-disjunction in double aneuploid fetus.Methods One villus sample from a fetus with multiple malformations detected by ultrasonography was conformed as mos46,X,+13[92]/47,XY,+13[8]by quantitative fluorescent polymerase chain reaction(QF-PCR)and karyotype analysis.Comparing the electrophoretogram of QF-PCR in peripheral blood samples of fetal parents,analyzed prenatal origin and cell stage of non-disjunction of this double aneuploidy case.Results The sample was verified as double aneuploidy with mos46,X,+13[92]/47,XY,+13[8]by QF-PCR and karyotype analysis.The extra chromosome 13 was from maternal origin and chromosome 13 nondisjunction occurred in meiosis stage I of oocytes.The X chromosome from maternal origin and sex chromosome nondisjunction occurred in postzygotic mitotic phase.Conclusion QF-PCR technique could be useful for diagnosis of double aneuploidies and analyzing the parental origin and cell stage of chromosome non-disjunction.This will improve knowledge about the mechanisms of nondisjunction in double aneuploidy.

关 键 词：双重非整倍体 荧光定量聚合酶链反应 染色体不分离 13三体综合征 TURNER综合征 

分 类 号：R714.5[医药卫生—妇产科学]