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Article: Catalog of 162 single nucleotide polymorphisms (SNPs) in a 4.7-kb region of the HLA-DP loci in southern Chinese ethnic groups

TitleCatalog of 162 single nucleotide polymorphisms (SNPs) in a 4.7-kb region of the HLA-DP loci in southern Chinese ethnic groups
Authors
KeywordsSpecies Index: Insertion Sequences
Issue Date2004
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, 2004, v. 49 n. 2, p. 73-79 How to Cite?
AbstractHLA class-II proteins are cell-surface molecules that present antigens to T cells, and their expressional regulation is crucial to the immune reaction. Sequence variation at the regulatory region can directly affect the gene expression level. We cloned and sequenced a 4.7-kb region containing the regulatory region, exonl, and partial intron1 of both HLA-DPA1 and DPB1 genes in 25 variable sequences from southern Chinese ethnic groups and got a high-density map of 162 single nucleotide polymorphisms (SNPs): seven in 5′-flanking regions, four in 5′-untranslated regions, and four in the coding regions. By comparing these data with SNPs in dbSNP database in the NCBI, 145 SNPs (89.5%) were novel. In addition, eight genetic variations of insertion-deletion polymorphisms (INDELs) were discovered within the 4.7-kb region. These high-resolution maps can be used as resources of markers for association studies of complex diseases, assessment of individuals' predisposition to diseases, and tailoring of therapies, as well as research markers for population genetics and evolution.
Persistent Identifierhttp://hdl.handle.net/10722/91043
ISSN
2023 Impact Factor: 2.6
2023 SCImago Journal Rankings: 1.148
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLiu, Xen_HK
dc.contributor.authorLiu, Zen_HK
dc.contributor.authorLin, Ben_HK
dc.contributor.authorLiu, Yen_HK
dc.contributor.authorChen, Zen_HK
dc.contributor.authorHe, Wen_HK
dc.contributor.authorZhong, Den_HK
dc.contributor.authorXu, Aen_HK
dc.date.accessioned2010-09-17T10:12:11Z-
dc.date.available2010-09-17T10:12:11Z-
dc.date.issued2004en_HK
dc.identifier.citationJournal of Human Genetics, 2004, v. 49 n. 2, p. 73-79en_HK
dc.identifier.issn1434-5161en_HK
dc.identifier.urihttp://hdl.handle.net/10722/91043-
dc.description.abstractHLA class-II proteins are cell-surface molecules that present antigens to T cells, and their expressional regulation is crucial to the immune reaction. Sequence variation at the regulatory region can directly affect the gene expression level. We cloned and sequenced a 4.7-kb region containing the regulatory region, exonl, and partial intron1 of both HLA-DPA1 and DPB1 genes in 25 variable sequences from southern Chinese ethnic groups and got a high-density map of 162 single nucleotide polymorphisms (SNPs): seven in 5′-flanking regions, four in 5′-untranslated regions, and four in the coding regions. By comparing these data with SNPs in dbSNP database in the NCBI, 145 SNPs (89.5%) were novel. In addition, eight genetic variations of insertion-deletion polymorphisms (INDELs) were discovered within the 4.7-kb region. These high-resolution maps can be used as resources of markers for association studies of complex diseases, assessment of individuals' predisposition to diseases, and tailoring of therapies, as well as research markers for population genetics and evolution.en_HK
dc.languageengen_HK
dc.publisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/10038/index.htmen_HK
dc.relation.ispartofJournal of Human Geneticsen_HK
dc.subjectSpecies Index: Insertion Sequencesen_HK
dc.titleCatalog of 162 single nucleotide polymorphisms (SNPs) in a 4.7-kb region of the HLA-DP loci in southern Chinese ethnic groupsen_HK
dc.typeArticleen_HK
dc.identifier.emailLin, B:blin@hku.hken_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/s10038-003-0110-7en_HK
dc.identifier.pmid14727153-
dc.identifier.scopuseid_2-s2.0-1642545475en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-1642545475&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume49en_HK
dc.identifier.issue2en_HK
dc.identifier.spage73en_HK
dc.identifier.epage79en_HK
dc.identifier.isiWOS:000189284900002-
dc.identifier.issnl1434-5161-

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