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

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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。

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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

Abstract：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 GeneMapper 5.0 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∶1 or 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.

Key words： QF-PCR Short tandem repeats typing Karyotyping Heterozygosity Rapid prenatal diagnosis

基金资助:广东省中山市医学科研项目（2021J256）

引用本文:

许晨霞；王德刚；张艳芳；郑国兵；彭建明. 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[J]. 中国当代医药, 2022, 29(11): 12-15.
XU Chenxia WANG Degang ZHANG Yanfang ZHENG Guobing PENG Jianming▲. Analysis of short tandem repeat heterozygosity in QF-PCR and research of comparison with Karyotyping. 中国当代医药, 2022, 29(11): 12-15.

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