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Article: DNA-based diagnosis of xeroderma pigmentosum group C by whole-genome scan using single-nucleotide polymorphism microarray

TitleDNA-based diagnosis of xeroderma pigmentosum group C by whole-genome scan using single-nucleotide polymorphism microarray
Authors
Lam, CWCheung, KKTLuk, NMChan, SWLo, KKTong, SF
KeywordsHomozygosity mapping
Single-nucleotide polymorphism microarray
Whole-genome scan
Xeroderma pigmentosum
Issue Date2005
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/jid/index.html
Citation
Journal Of Investigative Dermatology, 2005, v. 124 n. 1, p. 87-91 How to Cite?
DOI: http://dx.doi.org/10.1111/j.0022-202X.2004.23563.x
AbstractIn this study, we have established the molecular basis of xeroderma pigmentosum (XP) in two unrelated Chinese families. In the first patient with consanguineous parents, we mapped the disease-causing locus XPC using single-nucleotide polymorphism microarray. Mutational analysis of the XPC gene showed that the patient is homozygous for a nonsense mutation, E149X. After developing DNA-based diagnosis of XPC, we screened another XP patient for XPC mutations. We found that the second patient is a compound heterozygote of 1209delG and Q554X in this gene. These are the first XPC-causing mutations identified in Chinese patients.
Persistent Identifierhttp://hdl.handle.net/10722/148382
ISSN
0022-202X
2021 Impact Factor: 7.590
2020 SCImago Journal Rankings: 1.951
ISI Accession Number ID
WOS:000225951300015
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorCheung, KKTen_US
dc.contributor.authorLuk, NMen_US
dc.contributor.authorChan, SWen_US
dc.contributor.authorLo, KKen_US
dc.contributor.authorTong, SFen_US
dc.date.accessioned2012-05-29T06:12:37Z-
dc.date.available2012-05-29T06:12:37Z-
dc.date.issued2005en_US
dc.identifier.citationJournal Of Investigative Dermatology, 2005, v. 124 n. 1, p. 87-91en_US
dc.identifier.issn0022-202Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/148382-
dc.description.abstractIn this study, we have established the molecular basis of xeroderma pigmentosum (XP) in two unrelated Chinese families. In the first patient with consanguineous parents, we mapped the disease-causing locus XPC using single-nucleotide polymorphism microarray. Mutational analysis of the XPC gene showed that the patient is homozygous for a nonsense mutation, E149X. After developing DNA-based diagnosis of XPC, we screened another XP patient for XPC mutations. We found that the second patient is a compound heterozygote of 1209delG and Q554X in this gene. These are the first XPC-causing mutations identified in Chinese patients.en_US
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/jid/index.htmlen_US
dc.relation.ispartofJournal of Investigative Dermatologyen_US
dc.subjectHomozygosity mapping-
dc.subjectSingle-nucleotide polymorphism microarray-
dc.subjectWhole-genome scan-
dc.subjectXeroderma pigmentosum-
dc.subject.meshAdulten_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenomics - Methodsen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshOligonucleotide Array Sequence Analysisen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.subject.meshXeroderma Pigmentosum - Diagnosis - Geneticsen_US
dc.titleDNA-based diagnosis of xeroderma pigmentosum group C by whole-genome scan using single-nucleotide polymorphism microarrayen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1111/j.0022-202X.2004.23563.xen_US
dc.identifier.pmid15654957-
dc.identifier.scopuseid_2-s2.0-11944270642en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-11944270642&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume124en_US
dc.identifier.issue1en_US
dc.identifier.spage87en_US
dc.identifier.epage91en_US
dc.identifier.isiWOS:000225951300015-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.citeulike33170-
dc.identifier.issnl0022-202X-

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