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Article: DNA analysis of Huntington's disease in Southern Chinese

TitleDNA analysis of Huntington's disease in Southern Chinese
Authors
Issue Date1995
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal Of Medical Genetics, 1995, v. 32 n. 2, p. 120-124 How to Cite?
AbstractAllelic frequencies of RFLPs at loci closely linked to the HD gene, D4S95, D4S91, D4S141, and D4S90, were determined in 13 Huntington's disease (HD) patients from nine Chinese families and 129 normal subjects. These were similar for non-HD and HD chromosomes and the HD gene in Chinese is associated with multiple haplotypes. Hence the HD gene probably arose independently in the background haplotypes of the Chinese population. The heterozygosity rates for the two most useful RFLP sites are 0.659 for D4S95-AcI VNTR and 0.494 for D4S141-HindIII. (CAG)n repeat numbers ranged from 12 to 27 in 174 normal chromosomes. In 52 meiotic recombinations, the (CAG)n repeats were stably inherited in normal families. In HD families, 12 of 13 HD patients had expanded (CAG)n repeats of 40 to 58. Additionally, 10 asymptomatic family members had expanded (CAG)n repeats and the inheritance of the expanded repeat was unstable in these families.
Persistent Identifierhttp://hdl.handle.net/10722/42142
ISSN
2023 Impact Factor: 3.5
2023 SCImago Journal Rankings: 1.690
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_HK
dc.contributor.authorYu, YLen_HK
dc.contributor.authorChan, TPTen_HK
dc.contributor.authorYip, Ben_HK
dc.contributor.authorChang, CMen_HK
dc.contributor.authorWong, MTHen_HK
dc.contributor.authorChan, YWen_HK
dc.contributor.authorChan, TKen_HK
dc.date.accessioned2007-01-08T02:30:09Z-
dc.date.available2007-01-08T02:30:09Z-
dc.date.issued1995en_HK
dc.identifier.citationJournal Of Medical Genetics, 1995, v. 32 n. 2, p. 120-124en_HK
dc.identifier.issn0022-2593en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42142-
dc.description.abstractAllelic frequencies of RFLPs at loci closely linked to the HD gene, D4S95, D4S91, D4S141, and D4S90, were determined in 13 Huntington's disease (HD) patients from nine Chinese families and 129 normal subjects. These were similar for non-HD and HD chromosomes and the HD gene in Chinese is associated with multiple haplotypes. Hence the HD gene probably arose independently in the background haplotypes of the Chinese population. The heterozygosity rates for the two most useful RFLP sites are 0.659 for D4S95-AcI VNTR and 0.494 for D4S141-HindIII. (CAG)n repeat numbers ranged from 12 to 27 in 174 normal chromosomes. In 52 meiotic recombinations, the (CAG)n repeats were stably inherited in normal families. In HD families, 12 of 13 HD patients had expanded (CAG)n repeats of 40 to 58. Additionally, 10 asymptomatic family members had expanded (CAG)n repeats and the inheritance of the expanded repeat was unstable in these families.en_HK
dc.format.extent952083 bytes-
dc.format.extent25600 bytes-
dc.format.extent492550 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.format.mimetypeapplication/pdf-
dc.languageengen_HK
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/en_HK
dc.relation.ispartofJournal of Medical Geneticsen_HK
dc.rightsJournal of Medical Genetics. Copyright © B M J Publishing Group.en_HK
dc.subject.meshDna - analysisen_HK
dc.subject.meshAsian continental ancestry groupen_HK
dc.subject.meshGenetic markers - geneticsen_HK
dc.subject.meshGenetics, populationen_HK
dc.subject.meshHaplotypesen_HK
dc.titleDNA analysis of Huntington's disease in Southern Chineseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-2593&volume=32&issue=2&spage=120&epage=124&date=1995&atitle=DNA+analysis+of+Huntington%27s+disease+in+southern+Chineseen_HK
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1136/jmg.32.2.120-
dc.identifier.pmid7760321en_HK
dc.identifier.pmcidPMC1050233-
dc.identifier.scopuseid_2-s2.0-0028937024en_HK
dc.identifier.hkuros4704-
dc.identifier.volume32en_HK
dc.identifier.issue2en_HK
dc.identifier.spage120en_HK
dc.identifier.epage124en_HK
dc.identifier.isiWOS:A1995QG98900010-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridYu, YL=8094845300en_HK
dc.identifier.scopusauthoridChan, TPT=7402687517en_HK
dc.identifier.scopusauthoridYip, B=16685586100en_HK
dc.identifier.scopusauthoridChang, CM=7407031960en_HK
dc.identifier.scopusauthoridWong, MTH=12240050100en_HK
dc.identifier.scopusauthoridChan, YW=7403676348en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK
dc.identifier.issnl0022-2593-

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