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Article: Carrier incidence for spinal muscular atrophy in southern Chinese

TitleCarrier incidence for spinal muscular atrophy in southern Chinese
Authors
Chan, VYip, BYam, IAu, PLin, CKWong, VChan, TK
KeywordsPhenotype
QPCR
SMA carriers
SMN1
SMN2
Issue Date2004
PublisherDr Dietrich Steinkopff Verlag. The Journal's web site is located at http://www.link.springer.de/link/service/journals/00415/index.htm
Citation
Journal Of Neurology, 2004, v. 251 n. 9, p. 1089-1093 How to Cite?
DOI: http://dx.doi.org/10.1007/s00415-004-0487-z
AbstractA real time quantitative PCR (QPCR) method using TaqMan technology was used to assess the copy number of the two survival motor neuron genes (SMN1 and SMN2) on chromosome 5q13. This allows the accurate determination of carriers for spinal muscular atrophy (SMA), with one copy of SMN1. Analysis of 569 normal southern Chinese individuals revealed a carrier incidence of 1.6%, similar to that found in the western society. Study of 42 obligatory carriers showed a (2 + 0) genotype in two (4.8%). In 27 SMA patients with homozygous deletion of the SMN1 gene, the number of SMN2 gene correlated with disease phenotype, with 68% of type II and III patients carrying three or more SMN2 genes, whilst the incidence of three or more SMN2 genes in the normal population was 1.57%.
Persistent Identifierhttp://hdl.handle.net/10722/77698
ISSN
0340-5354
2021 Impact Factor: 6.682
2020 SCImago Journal Rankings: 1.541
ISI Accession Number ID
WOS:000224054900008
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_HK
dc.contributor.authorYip, Ben_HK
dc.contributor.authorYam, Ien_HK
dc.contributor.authorAu, Pen_HK
dc.contributor.authorLin, CKen_HK
dc.contributor.authorWong, Ven_HK
dc.contributor.authorChan, TKen_HK
dc.date.accessioned2010-09-06T07:34:44Z-
dc.date.available2010-09-06T07:34:44Z-
dc.date.issued2004en_HK
dc.identifier.citationJournal Of Neurology, 2004, v. 251 n. 9, p. 1089-1093en_HK
dc.identifier.issn0340-5354en_HK
dc.identifier.urihttp://hdl.handle.net/10722/77698-
dc.description.abstractA real time quantitative PCR (QPCR) method using TaqMan technology was used to assess the copy number of the two survival motor neuron genes (SMN1 and SMN2) on chromosome 5q13. This allows the accurate determination of carriers for spinal muscular atrophy (SMA), with one copy of SMN1. Analysis of 569 normal southern Chinese individuals revealed a carrier incidence of 1.6%, similar to that found in the western society. Study of 42 obligatory carriers showed a (2 + 0) genotype in two (4.8%). In 27 SMA patients with homozygous deletion of the SMN1 gene, the number of SMN2 gene correlated with disease phenotype, with 68% of type II and III patients carrying three or more SMN2 genes, whilst the incidence of three or more SMN2 genes in the normal population was 1.57%.en_HK
dc.languageengen_HK
dc.publisherDr Dietrich Steinkopff Verlag. The Journal's web site is located at http://www.link.springer.de/link/service/journals/00415/index.htmen_HK
dc.relation.ispartofJournal of Neurologyen_HK
dc.subjectPhenotypeen_HK
dc.subjectQPCRen_HK
dc.subjectSMA carriersen_HK
dc.subjectSMN1en_HK
dc.subjectSMN2en_HK
dc.subject.meshAsian Continental Ancestry Group - genetics - statistics & numerical dataen_HK
dc.subject.meshChina - epidemiologyen_HK
dc.subject.meshCyclic AMP Response Element-Binding Proteinen_HK
dc.subject.meshHeterozygote Detectionen_HK
dc.subject.meshHumansen_HK
dc.subject.meshIncidenceen_HK
dc.subject.meshMuscular Atrophy, Spinal - epidemiology - geneticsen_HK
dc.subject.meshNerve Tissue Proteins - geneticsen_HK
dc.subject.meshRNA-Binding Proteinsen_HK
dc.subject.meshSMN Complex Proteinsen_HK
dc.subject.meshSurvival of Motor Neuron 1 Proteinen_HK
dc.subject.meshSurvival of Motor Neuron 2 Proteinen_HK
dc.titleCarrier incidence for spinal muscular atrophy in southern Chineseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0340-5354&volume=251&spage=1089&epage=1093&date=2004&atitle=Carrier+incidence+for+spinal+muscular+atrophy+in+southern+Chineseen_HK
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_HK
dc.identifier.emailWong, V:vcnwong@hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.identifier.authorityWong, V=rp00334en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/s00415-004-0487-zen_HK
dc.identifier.pmid15372251-
dc.identifier.scopuseid_2-s2.0-4644336081en_HK
dc.identifier.hkuros95085en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-4644336081&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume251en_HK
dc.identifier.issue9en_HK
dc.identifier.spage1089en_HK
dc.identifier.epage1093en_HK
dc.identifier.isiWOS:000224054900008-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridYip, B=16685586100en_HK
dc.identifier.scopusauthoridYam, I=6603358817en_HK
dc.identifier.scopusauthoridAu, P=18533445100en_HK
dc.identifier.scopusauthoridLin, CK=15035208100en_HK
dc.identifier.scopusauthoridWong, V=7202525632en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK
dc.identifier.issnl0340-5354-

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