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Conference Paper: Gene mapping of familial amyotrophic lateral sclerosis

TitleGene mapping of familial amyotrophic lateral sclerosis
Authors
KeywordsMedical sciences
Issue Date2003
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org.hk
Citation
The 8th Medical Research Conference (MRC 2003), Hong Kong, 25-26 January 2003. In Hong Kong Medical Journal, Hong Kong, China, 25-26 January 2003, v. 9 n. 1 suppl. 1, p. 77, abstarct NUS-11 How to Cite?
AbstractINTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a lethal neurodegenerative disorder characterized by gradual death of motor neurons in cerebral cortex, brain stem, and spinal cord. The pathogenetic mechanism remains unclear for the vast majority of cases. About 10% of ALS cases are familial (FALS). Cu/Zn superoxide dismutase (SOD1) gene accounts for about 10% of autosomal dominant FALS and the gene(s) responsible for the rest of ALS/ FALS remain(s) to be found. METHOD: We recruited a large Chinese kindred without SOD1 mutation for linkage analysis. Peripheral blood samples were collected and DNA were extracted from peripheral lymphocyte. We screened the family with ~ 400 polymorphic microsatellite markers. The genotyping data were subjected to model-based and model-free linkage analysis. RESULT: Using MLINK of LINKAGE (Ver 5.2) package, we found a maximum LOD score of 4.357, ?[m=f]=0.0 at a microsatellite marker located at distal long arm of chromosome 8. Multipoint analysis by GENEHUNTER (Ver 1.2) revealed a maximum multipoint LOD score of 3.909 and NPL score 9.209. Haplotype analyses revealed a critical region which spanned 10.18-cM on chromosome 8. CONCLUSION: We identified a 10.18-cM critical FALS region on chromosome 8. Further analyses using positional cloning and candidate gene approach are indicated to delineate the underlying genetic defect for FALS in this family.
Persistent Identifierhttp://hdl.handle.net/10722/45723
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279

 

DC FieldValueLanguage
dc.contributor.authorFong, GCYen_HK
dc.contributor.authorCheng, TSen_HK
dc.contributor.authorHo, PWLen_HK
dc.contributor.authorChan, ATCen_HK
dc.contributor.authorMak, Wen_HK
dc.contributor.authorCheung, CMen_HK
dc.contributor.authorMok, CCen_HK
dc.contributor.authorChan, KHen_HK
dc.contributor.authorTsang, KLen_HK
dc.contributor.authorKung, MHWen_HK
dc.contributor.authorLi, LSWen_HK
dc.contributor.authorTsoi, THen_HK
dc.contributor.authorRamsden, DBen_HK
dc.contributor.authorCheung, RTFen_HK
dc.contributor.authorHo, SLen_HK
dc.date.accessioned2007-10-30T06:33:41Z-
dc.date.available2007-10-30T06:33:41Z-
dc.date.issued2003en_HK
dc.identifier.citationThe 8th Medical Research Conference (MRC 2003), Hong Kong, 25-26 January 2003. In Hong Kong Medical Journal, Hong Kong, China, 25-26 January 2003, v. 9 n. 1 suppl. 1, p. 77, abstarct NUS-11en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/45723-
dc.description.abstractINTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a lethal neurodegenerative disorder characterized by gradual death of motor neurons in cerebral cortex, brain stem, and spinal cord. The pathogenetic mechanism remains unclear for the vast majority of cases. About 10% of ALS cases are familial (FALS). Cu/Zn superoxide dismutase (SOD1) gene accounts for about 10% of autosomal dominant FALS and the gene(s) responsible for the rest of ALS/ FALS remain(s) to be found. METHOD: We recruited a large Chinese kindred without SOD1 mutation for linkage analysis. Peripheral blood samples were collected and DNA were extracted from peripheral lymphocyte. We screened the family with ~ 400 polymorphic microsatellite markers. The genotyping data were subjected to model-based and model-free linkage analysis. RESULT: Using MLINK of LINKAGE (Ver 5.2) package, we found a maximum LOD score of 4.357, ?[m=f]=0.0 at a microsatellite marker located at distal long arm of chromosome 8. Multipoint analysis by GENEHUNTER (Ver 1.2) revealed a maximum multipoint LOD score of 3.909 and NPL score 9.209. Haplotype analyses revealed a critical region which spanned 10.18-cM on chromosome 8. CONCLUSION: We identified a 10.18-cM critical FALS region on chromosome 8. Further analyses using positional cloning and candidate gene approach are indicated to delineate the underlying genetic defect for FALS in this family.-
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dc.languageengen_HK
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org.hken_HK
dc.relation.ispartofHong Kong Medical Journal-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectMedical sciencesen_HK
dc.titleGene mapping of familial amyotrophic lateral sclerosisen_HK
dc.typeConference_Paperen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=9&issue=1 Supp 1&spage=77&epage=&date=2003&atitle=Gene+mapping+of+familial+amyotrophic+lateral+sclerosisen_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.hkuros115174-
dc.identifier.volume9-
dc.identifier.issue1 suppl. 1-
dc.identifier.spage77, abstarct NUS-11-
dc.identifier.epage77, abstarct NUS-11-

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