QF-PCR技术中短串联重复序列杂合度分析及与染色体核型结果的比较研究  

Analysis of short tandem repeat heterozygosity in QF-PCR and research of comparison with Karyotyping

作　　者：许晨霞 王德刚[1] 张艳芳[1] 郑国兵[1] 彭建明[1] XU Chenxia;WANG Degang;ZHANG Yanfang;ZHENG Guobing;PENG Jianming(Prenatal Diagnostic Center,Boai Hospital of Zhongshan,Guangdong Province,Zhongshan,528400,China)

机构地区：[1]广东省中山市博爱医院产前诊断中心,广东中山528400

出　　处：《中国当代医药》2022年第11期12-15,F0003,共5页China Modern Medicine

基　　金：广东省中山市医学科研项目(2021J256)。

摘　　要：目的使用QF-PCR技术对产前样本进行快速诊断,分析多重短串联重复序列(STR)标记杂合度以及三体峰型,为QF-PCR试剂盒STR位点的设计提供研究基础。方法选取2020年9月至2021年7月在中山市博爱医院产前诊断中心进行介入性产前诊断的525例样本作为研究对象,运用QF-PCR技术对13、18、21及性染色体非整倍体进行快速诊断,使用GeneMapper 5.0软件查看并记录STR分型结果图。结果13、18、21及X染色体的STR标记中杂合度最高分别为D13S742、D18S386、D21S1414、DXS8377;杂合度最低的分别为D13S628、D18S391、D21S1433、DXS981。QF-PCR技术发现异常样本共计31例(5.9%),其中三体型27例(21三体19例,18三体6例,13三体2例),X单体1例,染色体其他异常3例;检测到18和21三体中均有4例STR标记为2∶1或者1∶2的双峰;STR位点均为单峰2例,STR位点仅一个双峰23例。结论与传统染色体核型分析比较,QF-PCR技术能更快速诊断常见染色体非整倍体的数目异常,具有简便快速、特异性高的优点。在设计QF-PCR试剂盒时需要选择D13S742、D18S386、D21S1414等杂合度高的STR位点。Objective Rapid diagnosis of prenatal samples was performed using QF-PCR to analyze multiple short tandem repeat(STR)marker heterozygosis and trisomy peak type.It provides a research basis for the design of STR loci in QF-PCR kits.Methods A total of 525 pregnant women who received interventional prenatal diagnosis in the Prenatal Diagnosis Center of Boai Hospital of Zhongshan from September 2020 to July 2021 were selected as the research subjects.QF-PCR technology was used for rapid diagnosis of 13,18,21 and sex chromosome aneuploid,and GeneMapper5.0 software was used to view and record the STR typing results.Results The most heterozygote markers on chromosome 13,18,21 and X were D13S742,D18S386,D21S1414 and DXS8377,and the lowest heterozygosity was detected for D13S628,D18S391,D21S1433 and DXS981.A total of 31 cases(5.9%)of abnormal samples were found by QFPCR,including 27 cases of trisomy 21(19 cases),trisomy 18(6 cases)and trisomy 13(2 cases),1 case of X monomer,and 3 cases of other chromosomal abnormalities.In both trisomy 18 and trisomy 21,4 cases of bimodal STR labeled 2∶1or 1∶2 were detected.All STR loci had single peak in 2 cases,and STR loci had only one double peak in 23 cases.Conclusion Compared with traditional Karyotyping,QF-PCR can diagnose the number abnormalities of common chromosome aneuploidy more quickly.QF-PCR has the advantages of simplicity,rapidity and high specificity.In the design of detection kits,STR loci with high heterozygosis for D13S742,D18S386 and D21S1414 should be selected as the interpretation of chromosome aneuploidy.

关 键 词：QF-PCR 短串联重复序列分型 染色体核型 杂合度 快速产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]