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Article: DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: Standardization of molecular investigations of genetic diseases due to consanguinity

TitleDNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: Standardization of molecular investigations of genetic diseases due to consanguinity
Authors
Issue Date2007
PublisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/10038/index.htm
Citation
Journal Of Human Genetics, 2007, v. 52 n. 1, p. 98-101 How to Cite?
AbstractMalignant osteopetrosis, a severe disease causing early infantile death in humans, is caused by mutations in the TCIRG1, CLCN7, or OSTM1 genes. We have established the molecular basis of malignant osteopetrosis in a Chinese family by means of whole-genome scans based on high-density single-nucleotide polymorphism (SNP) microarrays. Because the parents were consanguineous, the disease-causing locus should be located in an autozygous chromosomal region. Mapping revealed that among the three possible causal loci, only the CLCN7 gene was located in an autozygous region. Mutational analysis of the CLCN7 gene showed that the proband was homozygous for a novel missense mutation, p.I261F. p.I261 is located in helix F of the chloride channel, near a critical site for gating of the channel. This mapping study prepares the ground for future mutation studies by decreasing the burden of completely sequencing all possible loci for this disease. This approach can be used to standardize molecular investigations of genetic diseases due to consanguinity to a whole-genome scan and subsequent sequencing of the mapped disease gene. © 2006 The Japan Society of Human Genetics and Springer.
Persistent Identifierhttp://hdl.handle.net/10722/148497
ISSN
2015 Impact Factor: 2.487
2015 SCImago Journal Rankings: 1.416
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorWong, Ken_US
dc.contributor.authorLuo, YFen_US
dc.contributor.authorTang, HYen_US
dc.contributor.authorHa, SYen_US
dc.contributor.authorChan, MHMen_US
dc.date.accessioned2012-05-29T06:13:18Z-
dc.date.available2012-05-29T06:13:18Z-
dc.date.issued2007en_US
dc.identifier.citationJournal Of Human Genetics, 2007, v. 52 n. 1, p. 98-101en_US
dc.identifier.issn1434-5161en_US
dc.identifier.urihttp://hdl.handle.net/10722/148497-
dc.description.abstractMalignant osteopetrosis, a severe disease causing early infantile death in humans, is caused by mutations in the TCIRG1, CLCN7, or OSTM1 genes. We have established the molecular basis of malignant osteopetrosis in a Chinese family by means of whole-genome scans based on high-density single-nucleotide polymorphism (SNP) microarrays. Because the parents were consanguineous, the disease-causing locus should be located in an autozygous chromosomal region. Mapping revealed that among the three possible causal loci, only the CLCN7 gene was located in an autozygous region. Mutational analysis of the CLCN7 gene showed that the proband was homozygous for a novel missense mutation, p.I261F. p.I261 is located in helix F of the chloride channel, near a critical site for gating of the channel. This mapping study prepares the ground for future mutation studies by decreasing the burden of completely sequencing all possible loci for this disease. This approach can be used to standardize molecular investigations of genetic diseases due to consanguinity to a whole-genome scan and subsequent sequencing of the mapped disease gene. © 2006 The Japan Society of Human Genetics and Springer.en_US
dc.languageengen_US
dc.publisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/10038/index.htmen_US
dc.relation.ispartofJournal of Human Geneticsen_US
dc.subject.meshAsian Continental Ancestry Groupen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChloride Channels - Geneticsen_US
dc.subject.meshConsanguinityen_US
dc.subject.meshDna Mutational Analysis - Methodsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenome, Humanen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMembrane Proteins - Geneticsen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshOligonucleotide Array Sequence Analysis - Methods - Standardsen_US
dc.subject.meshOsteopetrosis - Diagnosis - Geneticsen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.subject.meshUbiquitin-Protein Ligases - Geneticsen_US
dc.subject.meshVacuolar Proton-Translocating Atpases - Geneticsen_US
dc.titleDNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: Standardization of molecular investigations of genetic diseases due to consanguinityen_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.doi10.1007/s10038-006-0075-4en_US
dc.identifier.pmid17033731en_US
dc.identifier.scopuseid_2-s2.0-33845903823en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33845903823&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume52en_US
dc.identifier.issue1en_US
dc.identifier.spage98en_US
dc.identifier.epage101en_US
dc.identifier.isiWOS:000242853400012-
dc.publisher.placeJapanen_US
dc.identifier.citeulike1037942-

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