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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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

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[1]	Boormans EM，Birnie E，Bilardo CM，et al.Karyotyping or rapid aneuploidy detection in prenatal diagnosis?The different views of users and providers of prenatal care[J].Bjog，2009，116（10）：1396-1399.
[2]	Moraes RW，Carvalho MH，Amorim-Filho AG，et al.Validation of QF-PCR for prenatal diagnoses in a Brazilian population[J].Clinics，2017，72（7）：400-404.
[3]	Mann K，Ogilvie CM.QF-PCR：application，overview and review of the literature[J].Prenat Diagn，2012，32（4）：309-314.
[4]	Masoudzadeh N，Teimourian S.Comparison of quantitative fluorescent polymerase chain reaction and karyotype analysis for prenatal screening of chromosomal aneuploidies in 270 amniotic fluid samples[J].J Perinat Med，2019，47（6）：631-636.
[5]	罗海艳，刘艳秋，邹永毅，等.QF-PCR 技术在539 例胎儿快速产前诊断中的应用[J].江西医药，2019，54（10）：1174-1177.
[6]	de Moraes RW，de Carvalho MHB，de Amorim-Filho AG，et al.Validation of QF-PCR for prenatal diagnoses in a Brazilian population[J].Clinics（Sao Paulo），2017，72（7）：400-404.
[7]	Tekcan A，Tural S，Elbistan M，et al.The combined QF-PCR and cytogenetic approach in prenatal diagnosis[J].Mol Biol Rep，2014，41（11）：7431-7436.
[8]	Sharma A，Kumar N，Bhardwaj A，et al.Molecular characterization and forensic relevance of the autosomal STRs for the population of North Indian geographical province Himachal Pradesh，India[J].Leg Med（Tokyo），2021，53：101958.
[9]	Dash HR，Vajpayee K，Srivastava A，et al.Prevalence and characterisation of size and sequence-based microvariant alleles at nine autosomal STR markers in the central Indian population[J].Ann Hum Biol，2021，48（7-8）：614-620.
[10]	Kumar A，Kumar R，Kumawat RK，et al.Population genetic data of 22 autosomal STR loci for the Scheduled Caste population of Rajasthan India[J].Ann Hum Biol，2021，48（7-8）：598-604.
[11]	Nasiri H，Noori-Dalooi MR，Dastan J，et al.Investigation of QF-PCR Application for Rapid Prenatal Diagnosis of Chromosomal Aneuploidies in Iranian Population[J].Iran J Pediatr，2011，21（1）：15-20.
[12]	Jain S，Panigrahi I，Sheth J，et al.STR markers for detecting heterogeneity in Indian population[J].Mol Biol Rep，2012，39（1）：461-465.
[13]	De Kock AA，Kloppers JJ.The impact of motherless paternity testing in a South African population[J].Afr Health Sci，2021，21（1）：379-384.
[14]	Chernus JM，Sherman SL，Feingold E.Analyses stratified by maternal age and recombination further characterize genes associated with maternal nondisjunction of chromosome 21[J].Prenat Diagn，2021，41（5）：591-609.
[15]	Inkster A，Thomas MA，Gamache NS，et al.A Challenging Prenatal QF-PCR Rapid Aneuploidy Test Result Caused by a Maternally Inherited Triplication within Chromosome Xq26.2[J].Cytogenet Genome Res，2018，156（1）：5-8.
[16]	Le TNU，Nguyen VN，Doan TDA，et al.An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32-11.22[J].Nagoya J Med Sci，2020，82（4）：783-790.
[17]	Liu Y，Guo L，Chen H，et al.Discrepancy of QF-PCR，CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes[J].Mol Cytogenet，2019，12：1.
[18]	Bhola SL，Nieuwint AWM，Stuurman KE.A prenatal case of partial trisomy 21（q22.2q22.3），resulting from a paternal insertion translocation ins（16；21）and uncovered by QFPCR，and characterized by array CGH and FISH[J].Clin Case Rep，2018，6（7）：1313-1316.