1例胎儿唐筛18三体高风险孕妇产前羊水细胞X染色体STRs相关位点基因拷贝数、细胞核型分析  

Analysis of gene copies and karyotype in antenatal AFCs X-STRs related sites of one pregnant woman with high risk of fetal T18 after Down’s screening

作　　者：龙若庭[1] 陈淑霞[1] 林萃[1] 罗华玉[1] 李恋湘 李淑娜[1] LONG Ruoting;CHEN Shuxia;LIN Cui;LUO Huayu;LI Lianxiang;LI Shuna(Zhuhai Center for Maternal and Child Health Care,Zhuhai 519001,China)

机构地区：[1]珠海市妇幼保健院检验科,广东珠海519001

出　　处：《山东医药》2021年第18期15-19,共5页Shandong Medical Journal

基　　金：广东省医学科学技术研究基金项目(B2020096)。

摘　　要：目的对1例胎儿唐氏筛查结果为18三体高风险孕妇的产前羊水细胞X染色体短串联重复序列(STRs)相关位点基因拷贝数、细胞染色体核型进行分析,明确胎儿的遗传学诊断。方法采集1例唐氏筛查结果为18三体高风险的孕妇羊水细胞,采用荧光定量聚合酶链反应(达瑞生物、瑞典Devyser紧凑型V3非整倍体检测试剂盒和中德美联AGCU19X-STRs多重荧光扩增试剂盒)扩增羊水细胞DNA,检测X染色体上STRs相关位点,测算基因拷贝数,并分析其羊水细胞染色体核型。结果该孕妇产前羊水细胞X染色体Xq13区基因存在2个拷贝,其他区域基因仅有1个拷贝。X染色体上DXS10159、DXS10164、DXS10162、DXS10079、DXS10074等5个位点上有不平衡双峰,而其余14个XSTRs位点均为单峰。羊水细胞染色体核型为46,X,+ma[r33]/45,X[67]。结论唐筛18三体高风险孕妇的羊水细胞丢失部分X染色体,羊水细胞染色体核型为46,X,+ma[r33]/45,X[67]嵌合体核型。Objective To identify the gene copies and karyotype in antenatal amniotic fliud cells(AFCs)X-chromosome short tandem repeats(X-STRs)related sites of one pregnant woman with high risk of fetal trisomy 18(T18)after Down’s screening,and to clarify the genetic diagnosis of the fetus.MethodsThe AFCs of the pregnant woman with high risk of fetal T18 after Down’s screening were collected.The fluorescence quantitative polymerase chain reaction(QF-PCR)[For healthy children,Devyser Compact v3 RUO kit(Sweden)and AGCU19X STRs multiple fluorescence amplification kit]was used to amplify the DNA of AFCs,and we detected the related sites and gene copies of STRs in X-chromosome,and analyzed karyotype of AFCs.ResultsThere were 2 copies in the Xq13 regional gene of X-chromosome in antenatal AFCs,and there was only 1 copy in the other regional gene.The sites of DXS10159,DXS10164,DXS10162l,DXS10079l and DXS10074 in the X-chromosome had unbalanced bimodality,while the sites of other 14 X-STRs were unimodal.The karyotypes of the AFCs were 46,X,+mar[33]/45,and X[67].ConclusionsThe AFCs of the pregnant woman with high risk of fetal T18 lost part of X-chromosome while remained centromere to Xq13 zone.The karyotypes of the AFCs were chimeric karyotypes,including 46,X,+mar[33]/45,and X[67].

关 键 词：短串联重复序列 染色体核型 非整倍体 嵌合体 18三体综合征 羊水细胞 

分 类 号：R446.7[医药卫生—诊断学]