Applicability of real-time PCR methodology in the neonatal detection of turner syndrome

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dc.contributor.authorRocha M.N.
dc.contributor.authorLongui C.A.
dc.contributor.authorKochi C.
dc.contributor.authorCorrea C.S.A.
dc.contributor.authorFaria C.D.C.
dc.contributor.authorRicheti F.
dc.contributor.authorMelo M.R.
dc.date.accessioned2024-03-13T01:31:09Z
dc.date.available2024-03-13T01:31:09Z
dc.date.issued2010
dc.description.abstractTurner syndrome (TS) is the complete or partial loss of the second sex chromosome, occurring in 1:5000 girls. Early recognition allows appropriate therapy for short stature and puberty. Neonatal diagnosis of TS permits detection of associated malformations, minimizing sequels. Aiming to develop a molecular method for the diagnosis of TS we employed blood samples stored on filter paper. We evaluated 78 female controls, 25 TS girls with 45,X karyotype, and 32 TS patients with other karyotypes. After DNA extraction, samples were submitted to real-time PCR, using primers and probes directed to the study gene ARSE and to the control gene GAPDH. A ROC curve established the ARSE:GAPDH ratio with a cutoff value of 0.7. Low ARSE:GAPDH ratio of <0.7 was present in 100% of 45,X TS patients. This cutoff value presented a sensitivity of 100% and a specificity of 100% in detecting 45,X TS patients with a positive predictive value of 100% and a negative predictive value of 100%. The same cutoff value was able to identify only 56% of TS with other karyotypes, in which we observed a mean (SD) ARSE:GAPDH ratio=0.66 (0.2); and the interquartile range=0.40.8. Determination of ARSE:GAPDH ratio is a fast, sensitive, and specific method, with viable cost and feasible automation, which makes it potentially applicable in neonatal screening programs for the diagnosis of Turner syndrome 45,X. © Georg Thieme Verlag KG Stuttgart - New York.
dc.description.firstpage677
dc.description.issuenumber9
dc.description.lastpage681
dc.description.volume42
dc.identifier.doi10.1055/s-0030-1253351
dc.identifier.issn0018-5043
dc.identifier.urihttps://dspace.mackenzie.br/handle/10899/37163
dc.relation.ispartofHormone and Metabolic Research
dc.rightsAcesso Restrito
dc.subject.otherlanguageARSE gene
dc.subject.otherlanguageneonatal screening
dc.subject.otherlanguagereal-time PCR
dc.subject.otherlanguageTurner syndrome
dc.titleApplicability of real-time PCR methodology in the neonatal detection of turner syndrome
dc.typeArtigo
local.scopus.citations5
local.scopus.eid2-s2.0-77955040850
local.scopus.updated2024-05-01
local.scopus.urlhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=77955040850&origin=inward
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