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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
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?
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
2015 Impact Factor: 6.915
2015 SCImago Journal Rankings: 2.612
ISI Accession Number ID
References

 

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.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-

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