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Article: False non-paternity in a family for prenatal diagnosis of β-thalassaemia

TitleFalse non-paternity in a family for prenatal diagnosis of β-thalassaemia
Authors
Issue Date1993
PublisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252
Citation
Prenatal Diagnosis, 1993, v. 13 n. 10, p. 977-982 How to Cite?
AbstractInitial screening for the common β-thalassaemia mutations with allele-specific oligonucleotide probe in an at-risk family suggested non-paternity. Subsequent DNA fingerprinting of the members proved otherwise. The mother had a codon 41/42 frameshift mutation and the father's defect, determined by direct sequencing of PCR-amplified β gene, was a codon 43 nonosense mutation. In the affected children, the close proximity of these two defects resulted in the absence of a hybridization signal to the normal probe in that region and a wrong assumption of homozygosity for the codon 41/42 mutation. The non-reactivity of the father's amplified DNA to the codon 41/42 thalassaemic probe accounted for the initial wrong conclusion of non-paternity. Since prior screening for β-thalassaemia mutations is done in all prenatal diagnosis programmes and concomitant inheritance of these two defects is relatively common in the Chinese, this 'artefact' of false non-paternity is worth noting.
Persistent Identifierhttp://hdl.handle.net/10722/161996
ISSN
2015 Impact Factor: 3.043
2015 SCImago Journal Rankings: 1.450
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_US
dc.contributor.authorChan, TPTen_US
dc.contributor.authorLau, Ken_US
dc.contributor.authorTodd, Den_US
dc.contributor.authorChan, TKen_US
dc.date.accessioned2012-09-05T05:16:32Z-
dc.date.available2012-09-05T05:16:32Z-
dc.date.issued1993en_US
dc.identifier.citationPrenatal Diagnosis, 1993, v. 13 n. 10, p. 977-982en_US
dc.identifier.issn0197-3851en_US
dc.identifier.urihttp://hdl.handle.net/10722/161996-
dc.description.abstractInitial screening for the common β-thalassaemia mutations with allele-specific oligonucleotide probe in an at-risk family suggested non-paternity. Subsequent DNA fingerprinting of the members proved otherwise. The mother had a codon 41/42 frameshift mutation and the father's defect, determined by direct sequencing of PCR-amplified β gene, was a codon 43 nonosense mutation. In the affected children, the close proximity of these two defects resulted in the absence of a hybridization signal to the normal probe in that region and a wrong assumption of homozygosity for the codon 41/42 mutation. The non-reactivity of the father's amplified DNA to the codon 41/42 thalassaemic probe accounted for the initial wrong conclusion of non-paternity. Since prior screening for β-thalassaemia mutations is done in all prenatal diagnosis programmes and concomitant inheritance of these two defects is relatively common in the Chinese, this 'artefact' of false non-paternity is worth noting.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252en_US
dc.relation.ispartofPrenatal Diagnosisen_US
dc.subject.meshAdulten_US
dc.subject.meshAmniocentesisen_US
dc.subject.meshCodon - Geneticsen_US
dc.subject.meshDna Fingerprintingen_US
dc.subject.meshElectrophoresis, Polyacrylamide Gelen_US
dc.subject.meshFemaleen_US
dc.subject.meshFetal Diseases - Diagnosis - Geneticsen_US
dc.subject.meshFrameshift Mutationen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshNucleic Acid Hybridizationen_US
dc.subject.meshPaternityen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.subject.meshPregnancyen_US
dc.subject.meshBeta-Thalassemia - Diagnosis - Geneticsen_US
dc.titleFalse non-paternity in a family for prenatal diagnosis of β-thalassaemiaen_US
dc.typeArticleen_US
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_US
dc.identifier.authorityChan, V=rp00320en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/pd.1970131012en_US
dc.identifier.pmid7906036-
dc.identifier.scopuseid_2-s2.0-0027428151en_US
dc.identifier.volume13en_US
dc.identifier.issue10en_US
dc.identifier.spage977en_US
dc.identifier.epage982en_US
dc.identifier.isiWOS:A1993MF25700010-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridChan, V=7202654865en_US
dc.identifier.scopusauthoridChan, TPT=7402687517en_US
dc.identifier.scopusauthoridLau, K=35205833900en_US
dc.identifier.scopusauthoridTodd, D=7201388182en_US
dc.identifier.scopusauthoridChan, TK=7402687762en_US

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