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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
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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
 
AuthorsLam, CW2
Tong, SF2
Wong, K4
Luo, YF4
Tang, HY3
Ha, SY1
Chan, MHM2
 
Issue Date2007
 
PublisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/10038/index.htm
 
CitationJournal Of Human Genetics, 2007, v. 52 n. 1, p. 98-101 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s10038-006-0075-4
 
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.
 
ISSN1434-5161
2013 Impact Factor: 2.526
 
DOIhttp://dx.doi.org/10.1007/s10038-006-0075-4
 
ISI Accession Number IDWOS:000242853400012
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLam, CW
 
dc.contributor.authorTong, SF
 
dc.contributor.authorWong, K
 
dc.contributor.authorLuo, YF
 
dc.contributor.authorTang, HY
 
dc.contributor.authorHa, SY
 
dc.contributor.authorChan, MHM
 
dc.date.accessioned2012-05-29T06:13:18Z
 
dc.date.available2012-05-29T06:13:18Z
 
dc.date.issued2007
 
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.
 
dc.description.naturelink_to_subscribed_fulltext
 
dc.identifier.citationJournal Of Human Genetics, 2007, v. 52 n. 1, p. 98-101 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s10038-006-0075-4
 
dc.identifier.citeulike1037942
 
dc.identifier.doihttp://dx.doi.org/10.1007/s10038-006-0075-4
 
dc.identifier.epage101
 
dc.identifier.isiWOS:000242853400012
 
dc.identifier.issn1434-5161
2013 Impact Factor: 2.526
 
dc.identifier.issue1
 
dc.identifier.pmid17033731
 
dc.identifier.scopuseid_2-s2.0-33845903823
 
dc.identifier.spage98
 
dc.identifier.urihttp://hdl.handle.net/10722/148497
 
dc.identifier.volume52
 
dc.languageeng
 
dc.publisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/10038/index.htm
 
dc.publisher.placeJapan
 
dc.relation.ispartofJournal of Human Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAsian Continental Ancestry Group
 
dc.subject.meshBase Sequence
 
dc.subject.meshChloride Channels - Genetics
 
dc.subject.meshConsanguinity
 
dc.subject.meshDna Mutational Analysis - Methods
 
dc.subject.meshFemale
 
dc.subject.meshGenome, Human
 
dc.subject.meshHumans
 
dc.subject.meshMale
 
dc.subject.meshMembrane Proteins - Genetics
 
dc.subject.meshMolecular Sequence Data
 
dc.subject.meshOligonucleotide Array Sequence Analysis - Methods - Standards
 
dc.subject.meshOsteopetrosis - Diagnosis - Genetics
 
dc.subject.meshPedigree
 
dc.subject.meshPolymorphism, Single Nucleotide
 
dc.subject.meshUbiquitin-Protein Ligases - Genetics
 
dc.subject.meshVacuolar Proton-Translocating Atpases - Genetics
 
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 consanguinity
 
dc.typeArticle
 
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Author Affiliations
  1. The University of Hong Kong
  2. Prince of Wales Hospital Hong Kong
  3. Tsan Yuk Hospital
  4. Centro Hospitalar Conde de S. Januário (CHCSJ)