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Article: Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

TitleMutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity
Authors
KeywordsATP7B
Genotype
Haplotype
Hong Kong Chinese
Novel mutation
P.R778L founder mutation
Wilson disease
Issue Date2008
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, 2008, v. 53 n. 1, p. 55-63 How to Cite?
AbstractWilson disease (WD), an autosomal recessive disorder of copper transport, is the most common inherited liver disorder in Hong Kong Chinese. This was the first local study to elucidate the molecular basis and establish an effective DNA-based diagnostic protocol. The ATP7B genes of 65 patients were amplified by polymerase chain reaction (PCR) and sequenced. Haplotype analysis was performed using D13S301, D13S314, and D13S316. The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence. Allele age of p.R778L was determined by the smallest homozygosity region between D13S301 and D13S270. We identified 42 different mutations with 17 being novel. p.R778L (17.3%) was the most prevalent. Exons 2, 8, 12, 13, and 16 harbored 70% mutations. Thirty-two haplotypes were associated with WD chromosomes. The estimated prevalence rate was 1 in 5,400. Three out of 660 normal subjects had p.L770L/p.R778L. In the remaining 657 individuals, neither p.L770L nor p.R778L was found. We characterized a Hong Kong Chinese-specific ATP7B mutation spectrum with great genetic diversity. Exons 2, 8, 12, 13, and 16 should be screened first. The perfect linkage disequilibrium suggested that p.R778L and its private polymorphism p.L770L originated from a single ancestor. This East-Asian-specific mutation p.R778L/p.L770L is aged at least 5,500 years. © 2007 The Japan Society of Human Genetics and Springer.
Persistent Identifierhttp://hdl.handle.net/10722/77576
ISSN
2014 Impact Factor: 2.462
2014 SCImago Journal Rankings: 1.018
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorTam, Sen_HK
dc.contributor.authorLai, CLen_HK
dc.contributor.authorChan, LYen_HK
dc.contributor.authorFan, STen_HK
dc.contributor.authorLau, YLen_HK
dc.contributor.authorLai, JYen_HK
dc.contributor.authorYuen, Pen_HK
dc.contributor.authorHui, Jen_HK
dc.contributor.authorFu, CCen_HK
dc.contributor.authorWong, KSen_HK
dc.contributor.authorMak, WLen_HK
dc.contributor.authorTze, Ken_HK
dc.contributor.authorTong, SFen_HK
dc.contributor.authorLau, Aen_HK
dc.contributor.authorLeung, Nen_HK
dc.contributor.authorHui, Aen_HK
dc.contributor.authorCheung, KMen_HK
dc.contributor.authorKo, CHen_HK
dc.contributor.authorChan, YKen_HK
dc.contributor.authorMa, Oen_HK
dc.contributor.authorChau, TNen_HK
dc.contributor.authorChiu, Aen_HK
dc.contributor.authorChan, YWen_HK
dc.date.accessioned2010-09-06T07:33:24Z-
dc.date.available2010-09-06T07:33:24Z-
dc.date.issued2008en_HK
dc.identifier.citationJournal Of Human Genetics, 2008, v. 53 n. 1, p. 55-63en_HK
dc.identifier.issn1434-5161en_HK
dc.identifier.urihttp://hdl.handle.net/10722/77576-
dc.description.abstractWilson disease (WD), an autosomal recessive disorder of copper transport, is the most common inherited liver disorder in Hong Kong Chinese. This was the first local study to elucidate the molecular basis and establish an effective DNA-based diagnostic protocol. The ATP7B genes of 65 patients were amplified by polymerase chain reaction (PCR) and sequenced. Haplotype analysis was performed using D13S301, D13S314, and D13S316. The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence. Allele age of p.R778L was determined by the smallest homozygosity region between D13S301 and D13S270. We identified 42 different mutations with 17 being novel. p.R778L (17.3%) was the most prevalent. Exons 2, 8, 12, 13, and 16 harbored 70% mutations. Thirty-two haplotypes were associated with WD chromosomes. The estimated prevalence rate was 1 in 5,400. Three out of 660 normal subjects had p.L770L/p.R778L. In the remaining 657 individuals, neither p.L770L nor p.R778L was found. We characterized a Hong Kong Chinese-specific ATP7B mutation spectrum with great genetic diversity. Exons 2, 8, 12, 13, and 16 should be screened first. The perfect linkage disequilibrium suggested that p.R778L and its private polymorphism p.L770L originated from a single ancestor. This East-Asian-specific mutation p.R778L/p.L770L is aged at least 5,500 years. © 2007 The Japan Society of Human Genetics and Springer.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.subjectATP7Ben_HK
dc.subjectGenotypeen_HK
dc.subjectHaplotypeen_HK
dc.subjectHong Kong Chineseen_HK
dc.subjectNovel mutationen_HK
dc.subjectP.R778L founder mutationen_HK
dc.subjectWilson diseaseen_HK
dc.subject.meshAsian Continental Ancestry Groupen_HK
dc.subject.meshDNA Mutational Analysisen_HK
dc.subject.meshGene Frequencyen_HK
dc.subject.meshGenetic Heterogeneityen_HK
dc.subject.meshHaplotypesen_HK
dc.subject.meshHepatolenticular Degeneration - geneticsen_HK
dc.subject.meshHong Kongen_HK
dc.subject.meshHumansen_HK
dc.subject.meshLinkage Disequilibriumen_HK
dc.subject.meshMutationen_HK
dc.titleMutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneityen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1434-5161&volume=53&issue=1&spage=55&epage=63&date=2008&atitle=Mutational+analysis+of+65+Wilson+disease+patients+in+Hong+Kong+Chinese:+identification+of+17+novel+mutations+and+its+genetic+heterogeneityen_HK
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hken_HK
dc.identifier.emailLai, CL: hrmelcl@hku.hken_HK
dc.identifier.emailFan, ST: stfan@hku.hken_HK
dc.identifier.emailLau, YL: lauylung@hkucc.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.identifier.authorityLai, CL=rp00314en_HK
dc.identifier.authorityFan, ST=rp00355en_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/s10038-007-0218-2en_HK
dc.identifier.pmid18034201-
dc.identifier.scopuseid_2-s2.0-37549012199en_HK
dc.identifier.hkuros141602en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-37549012199&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume53en_HK
dc.identifier.issue1en_HK
dc.identifier.spage55en_HK
dc.identifier.epage63en_HK
dc.identifier.isiWOS:000251827900007-
dc.publisher.placeJapanen_HK
dc.identifier.scopusauthoridMak, CM=34971727200en_HK
dc.identifier.scopusauthoridLam, CW=34570692600en_HK
dc.identifier.scopusauthoridTam, S=7202037323en_HK
dc.identifier.scopusauthoridLai, CL=7403086396en_HK
dc.identifier.scopusauthoridChan, LY=23003415000en_HK
dc.identifier.scopusauthoridFan, ST=7402678224en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.scopusauthoridLai, JY=36017046500en_HK
dc.identifier.scopusauthoridYuen, P=7103124005en_HK
dc.identifier.scopusauthoridHui, J=7102160023en_HK
dc.identifier.scopusauthoridFu, CC=23004486600en_HK
dc.identifier.scopusauthoridWong, KS=7404759405en_HK
dc.identifier.scopusauthoridMak, WL=7005317288en_HK
dc.identifier.scopusauthoridTze, K=23006762800en_HK
dc.identifier.scopusauthoridTong, SF=7201486672en_HK
dc.identifier.scopusauthoridLau, A=23005056500en_HK
dc.identifier.scopusauthoridLeung, N=26643107200en_HK
dc.identifier.scopusauthoridHui, A=7102453674en_HK
dc.identifier.scopusauthoridCheung, KM=36103811100en_HK
dc.identifier.scopusauthoridKo, CH=23497325200en_HK
dc.identifier.scopusauthoridChan, YK=55065553500en_HK
dc.identifier.scopusauthoridMa, O=7004452841en_HK
dc.identifier.scopusauthoridChau, TN=7102000078en_HK
dc.identifier.scopusauthoridChiu, A=35721752900en_HK
dc.identifier.scopusauthoridChan, YW=9843540200en_HK

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