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Conference Paper: Screen for mutations or promoter polymorphism in the mannose binding lectin gene in Chinese patients with systemic lupus erythematosus

TitleScreen for mutations or promoter polymorphism in the mannose binding lectin gene in Chinese patients with systemic lupus erythematosus
Authors
Issue Date1997
PublisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Citation
The 35th Anniversary Scientific Meeting of The Hong Kong Paediatric Society, Hong Kong, 6 September 1997. In Hong Kong Journal of Paediatrics (New Series), 1997, v. 2 n. 2, p. 184 How to Cite?
AbstractMannose binding lectin (MBL) is a calcium-dependent serum lectin secreted by the liver as an acute-phase protein. It binds mannose and N-acetylglucosamine terminated glycoproteins and plays a very important role in the innate immune defence by opsonizing various microorganisms for phagocytosis. Low levels of the MBL have been implicated in the pathogenesis of systemic lupus erythematosus. Three point mutations have been previously found in the human MBL gene, located in codons 52, 54 and 57 of exon 1. They are predicted to affect the tertiary structure of the collagenous region of the protein, and are known to be associated with low serum concentrations of MBL. Two positions in the promoter region of the gene are also shown to be polymorphic in controlling MBL expression level. A group of Chinese patients with SLE were found to have persistently low MBL protein level by serial measurements using ELISA (Enzyme-linked-immunosorbent-assay). Studies such as by generation of DNA heteroduplexes using an universal heteroduplex generator (UHG) showed that they did not have the three previously reported mutations. The results from allelic specific oligonucleotide hybridization (ASO) to identify the promoter genotype also could not explain their low expression level. This study looked for unidentified polymorphism in the promoter or novel structural mutation of the gene which may be unique to the Chinese population. Screening for mutations in the exon 1 and 2 with PCR-SSCP Specific amplification of the target fragments with radioactively labeled primers was followed by non-denaturing polyacrylamide gel electrophoresis at room temperature. None of the PCR fragments of exon I and exon 2 from the 14 patients showed mobility shift. DNA sequence analysis for the promoter region The sequences of the promoter region of MBL gene in the DNA samples from the 14 patients and individuals who had normal MBL protein levels were amplified by PCR and subsequently sequenced directly. Eight hundred and fifty base-pair promoter region was sequenced and found to be the same as the published sequence with two polymorphic sites. The persistently low MBL serum levels in our Chinese SLE patients were unlikely to be due to any novel structural mutation and other promoter polymorphism. However, based on the results of MBL promoter haplotyping, an observation has been made that the MBL levels of our Chinese SLE patients were significantly lower than those of controls in each haplotype. There may be other risk factors that affect the MBL phenotype and the frequency of each promoter haplotype may be different. We are now studying a larger pool of sample.
Persistent Identifierhttp://hdl.handle.net/10722/106640
ISSN
2015 Impact Factor: 0.194
2015 SCImago Journal Rankings: 0.123

 

DC FieldValueLanguage
dc.contributor.authorIp, EWKen_HK
dc.contributor.authorChan, SYen_HK
dc.contributor.authorLau, YLen_HK
dc.date.accessioned2010-09-25T23:24:10Z-
dc.date.available2010-09-25T23:24:10Z-
dc.date.issued1997en_HK
dc.identifier.citationThe 35th Anniversary Scientific Meeting of The Hong Kong Paediatric Society, Hong Kong, 6 September 1997. In Hong Kong Journal of Paediatrics (New Series), 1997, v. 2 n. 2, p. 184en_HK
dc.identifier.issn1013-9923-
dc.identifier.urihttp://hdl.handle.net/10722/106640-
dc.description.abstractMannose binding lectin (MBL) is a calcium-dependent serum lectin secreted by the liver as an acute-phase protein. It binds mannose and N-acetylglucosamine terminated glycoproteins and plays a very important role in the innate immune defence by opsonizing various microorganisms for phagocytosis. Low levels of the MBL have been implicated in the pathogenesis of systemic lupus erythematosus. Three point mutations have been previously found in the human MBL gene, located in codons 52, 54 and 57 of exon 1. They are predicted to affect the tertiary structure of the collagenous region of the protein, and are known to be associated with low serum concentrations of MBL. Two positions in the promoter region of the gene are also shown to be polymorphic in controlling MBL expression level. A group of Chinese patients with SLE were found to have persistently low MBL protein level by serial measurements using ELISA (Enzyme-linked-immunosorbent-assay). Studies such as by generation of DNA heteroduplexes using an universal heteroduplex generator (UHG) showed that they did not have the three previously reported mutations. The results from allelic specific oligonucleotide hybridization (ASO) to identify the promoter genotype also could not explain their low expression level. This study looked for unidentified polymorphism in the promoter or novel structural mutation of the gene which may be unique to the Chinese population. Screening for mutations in the exon 1 and 2 with PCR-SSCP Specific amplification of the target fragments with radioactively labeled primers was followed by non-denaturing polyacrylamide gel electrophoresis at room temperature. None of the PCR fragments of exon I and exon 2 from the 14 patients showed mobility shift. DNA sequence analysis for the promoter region The sequences of the promoter region of MBL gene in the DNA samples from the 14 patients and individuals who had normal MBL protein levels were amplified by PCR and subsequently sequenced directly. Eight hundred and fifty base-pair promoter region was sequenced and found to be the same as the published sequence with two polymorphic sites. The persistently low MBL serum levels in our Chinese SLE patients were unlikely to be due to any novel structural mutation and other promoter polymorphism. However, based on the results of MBL promoter haplotyping, an observation has been made that the MBL levels of our Chinese SLE patients were significantly lower than those of controls in each haplotype. There may be other risk factors that affect the MBL phenotype and the frequency of each promoter haplotype may be different. We are now studying a larger pool of sample.-
dc.languageengen_HK
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp-
dc.relation.ispartofHong Kong Journal of Paediatrics (New Series)en_HK
dc.titleScreen for mutations or promoter polymorphism in the mannose binding lectin gene in Chinese patients with systemic lupus erythematosusen_HK
dc.typeConference_Paperen_HK
dc.identifier.emailChan, SY: sychan@hkucc.hku.hken_HK
dc.identifier.emailLau, YL: lauylung@hku.hken_HK
dc.identifier.authorityChan, SY=rp00356en_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.identifier.hkuros28458en_HK
dc.identifier.volume2-
dc.identifier.issue2-
dc.identifier.spage184en_HK
dc.identifier.epage184-
dc.publisher.placeHong Kong-
dc.description.otherThe 35th Anniversary Scientific Meeting of The Hong Kong Paediatric Society, Hong Kong, 6 September 1997. In Hong Kong Journal of Paediatrics (New Series), 1997, v. 2 n. 2, p. 184-

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