{"id":"https://openalex.org/W3179983992","doi":"https://doi.org/10.7754/clin.lab.2020.201112","title":"Application of Multiple Short Tandem Repeat Loci for Rapid Diagnosis of Down Syndrome and Edward Syndrome","display_name":"Application of Multiple Short Tandem Repeat Loci for Rapid Diagnosis of Down Syndrome and Edward Syndrome","publication_year":2021,"publication_date":"2021-01-01","ids":{"openalex":"https://openalex.org/W3179983992","doi":"https://doi.org/10.7754/clin.lab.2020.201112","mag":"3179983992","pmid":"https://pubmed.ncbi.nlm.nih.gov/34258961"},"language":"en","primary_location":{"id":"doi:10.7754/clin.lab.2020.201112","doi":"https://doi.org/10.7754/clin.lab.2020.201112","is_oa":false,"landing_page_url":"https://doi.org/10.7754/clin.lab.2020.201112","pdf_url":null,"source":{"id":"https://openalex.org/S36748825","display_name":"Clinical Laboratory","issn_l":"1433-6510","issn":["1433-6510"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4323283984","host_organization_name":"Clinical Laboratory Publications","host_organization_lineage":["https://openalex.org/P4323283984"],"host_organization_lineage_names":["Clinical Laboratory Publications"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Laboratory","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5090439197","display_name":"Kangying Wang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kangying Wang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101420408","display_name":"Lai Li","orcid":"https://orcid.org/0000-0003-2336-3202","observed_orcids":["https://orcid.org/0000-0003-2336-3202","https://orcid.org/0009-0008-9925-5279"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Li Lai","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027467386","display_name":"Haijian Tu","orcid":"https://orcid.org/0009-0005-9670-2465","observed_orcids":["https://orcid.org/0009-0005-9670-2465"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Haijian Tu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067767936","display_name":"Hua Lin","orcid":"https://orcid.org/0000-0002-2899-0697","observed_orcids":["https://orcid.org/0000-0002-2899-0697"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hua Lin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5069333368","display_name":"Xiaoli Shen","orcid":"https://orcid.org/0000-0001-9541-3462","observed_orcids":["https://orcid.org/0000-0001-9541-3462","https://orcid.org/0000-0001-6352-5654"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Xiaoli Shen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.452,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.57467986,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"67","issue":"07/2021","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/down-syndrome","display_name":"Down syndrome","score":0.9890000224113464},{"id":"https://openalex.org/keywords/trisomy-18","display_name":"trisomy 18","score":0.9629999995231628},{"id":"https://openalex.org/keywords/short-tandem-repeat-markers","display_name":"short tandem repeat loci","score":0.6940000057220459},{"id":"https://openalex.org/keywords/noninvasive-prenatal-diagnosis","display_name":"noninvasive prenatal diagnosis","score":0.8069999814033508},{"id":"https://openalex.org/keywords/fluorescence-quantitative-pcr","display_name":"fluorescence quantitative PCR","score":0.7749999761581421},{"id":"https://openalex.org/keywords/amniotic-fluid","display_name":"amniotic fluid","score":0.7839999794960022},{"id":"https://openalex.org/keywords/aneuploidy","display_name":"aneuploidy","score":0.925000011920929},{"id":"https://openalex.org/keywords/karyology","display_name":"karyology","score":0.6039999723434448},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.8930000066757202},{"id":"https://openalex.org/keywords/prenatal-diagnosis-accuracy","display_name":"prenatal diagnosis accuracy","score":0.49900001287460327},{"id":"https://openalex.org/keywords/trisomy-13","display_name":"trisomy 13","score":0.6430000066757202}],"concepts":[{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.42926254868507385},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.39922183752059937},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37064266204833984},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3372284770011902},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.26872527599334717}],"mesh":[{"descriptor_ui":"D000073842","descriptor_name":"Trisomy 18 Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000782","descriptor_name":"Aneuploidy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.7754/clin.lab.2020.201112","doi":"https://doi.org/10.7754/clin.lab.2020.201112","is_oa":false,"landing_page_url":"https://doi.org/10.7754/clin.lab.2020.201112","pdf_url":null,"source":{"id":"https://openalex.org/S36748825","display_name":"Clinical Laboratory","issn_l":"1433-6510","issn":["1433-6510"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4323283984","host_organization_name":"Clinical Laboratory Publications","host_organization_lineage":["https://openalex.org/P4323283984"],"host_organization_lineage_names":["Clinical Laboratory Publications"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Laboratory","raw_type":"journal-article"},{"id":"pmid:34258961","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34258961","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical laboratory","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2081954425","https://openalex.org/W204635181","https://openalex.org/W2911837769","https://openalex.org/W2376646391","https://openalex.org/W2948471546","https://openalex.org/W1996314722","https://openalex.org/W2019048697","https://openalex.org/W2403689443","https://openalex.org/W2148862179","https://openalex.org/W1986090838"],"abstract_inverted_index":{"BACKGROUND:":[0],"Chromosomal":[1],"diseases":[2,13,47],"with":[3,132,151,268,296],"chromosomal":[4,63,170,221,262],"abnormalities":[5],"are":[6,43,130],"one":[7],"of":[8,52,78,117,135,154,169,177,183,188,200,208,228,234,240,245,249,261,271,277,284,307,322,329],"the":[9,76,133,152,164,216,290,294,304,320],"most":[10],"common":[11],"genetic":[12],"in":[14,89],"humans,":[15],"including":[16,174,231],"abnormal":[17,50,302],"numbers":[18,51],"and":[19,35,59,69,86,101,120,138,180,203,237,254,274,300,312,332],"structural":[20],"abnormalities.":[21],"Patau":[22],"syndrome":[23,30,37,179,202,331,334],"(also":[24,31,38],"known":[25,39],"as":[26,40,160],"trisomy":[27,33,41,118,229,246,272,278],"13),":[28],"Edward":[29,178,201,333],"called":[32],"18),":[34],"Down":[36,184,209,330],"21)":[42],"all":[44,220],"clinically":[45],"fatal":[46],"caused":[48],"by":[49,122,148,266],"autosomes.":[53],"However,":[54],"there":[55],"is":[56,287,293],"no":[57],"reliable":[58],"effective":[60],"cure":[61],"for":[62,326],"diseases,":[64],"mainly":[65],"relying":[66],"on":[67],"fast":[68],"accurate":[70],"prenatal":[71,124],"diagnosis":[72,328],"technology":[73,105,126,150,286,311],"to":[74,106],"reduce":[75],"rate":[77,283,306],"birth":[79],"defects.":[80],"METHODS:":[81],"Fluorescent-labeled":[82],"primers":[83],"were":[84,113,146,172,193,219,225,264],"designed":[85],"then":[87],"used":[88],"fluorescence":[90],"quantitative":[91],"polymerase":[92],"chain":[93],"reaction":[94],"(FQ-PCR)":[95],"composite":[96],"amplification,":[97],"capillary":[98],"electrophoresis":[99],"typing,":[100],"gene":[102],"fragment":[103],"analysis":[104,137,213,292,314],"detect":[107],"64":[108],"amniotic":[109],"fluid":[110],"samples,":[111,303],"which":[112],"indicated":[114],"high":[115,336],"risks":[116],"18":[119,273],"21":[121],"non-invasive":[123],"diagnostic":[125],"(NIPT).":[127],"The":[128,281],"results":[129,134,308],"compared":[131],"karyotype":[136,212,291,313],"chromo-some":[139],"copy":[140],"variations":[141],"(CNVs).":[142],"RESULTS:":[143],"Sixty-four":[144],"samples":[145,218],"determined":[147],"FQ-PCR":[149],"help":[153],"short":[155],"tandem":[156],"repeat":[157],"(STR)":[158],"regarded":[159],"molecular":[161],"marker":[162],"(STR-FQ-PCR),":[163],"result":[165],"showed":[166,214],"61":[167],"cases":[168,176,182,227,233,244,251,256,260,270,276],"aneuploidy":[171,263],"positive,":[173],"14":[175,232,269],"47":[181,250],"syndrome.":[185,210],"A":[186],"total":[187],"460":[189],"STR":[190,197,205,324],"locus":[191,198,206],"genotypes":[192,199,207],"detected,":[194],"containing":[195],"84":[196],"376":[204],"Chromosome":[211],"that":[215],"detected":[217,265],"aneuploidy.":[222],"Among":[223],"them":[224],"15":[226],"18,":[230],"homozygous":[235,252],"type":[236,253],"1":[238],"case":[239],"chimeric":[241,257],"type,":[242],"49":[243],"21,":[247],"consisting":[248],"2":[255],"type.":[258],"Sixty-two":[259],"CNVs":[267],"48":[275],"21.":[279],"CONCLUSIONS:":[280],"detectable":[282],"STR-FQ-PCR":[285,310],"95.31%":[288],"while":[289],"highest":[295],"100%.":[297,316],"For":[298],"non-chimera":[299],"non-structural":[301],"coincidence":[305],"between":[309],"was":[315],"All":[317],"above":[318],"manifested":[319],"application":[321],"multiple":[323],"loci":[325],"rapid":[327],"has":[335],"clinical":[337],"value.":[338]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2021-07-19T00:00:00"}
