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dc.contributor.author김영은-
dc.date.accessioned2019-11-25T02:38:26Z-
dc.date.available2019-11-25T02:38:26Z-
dc.date.issued2017-05-
dc.identifier.citationJOURNAL OF HUMAN GENETICS, v. 62, no. 9, page. 815-818en_US
dc.identifier.issn1434-5161-
dc.identifier.issn1435-232X-
dc.identifier.urihttps://www.nature.com/articles/jhg201749-
dc.identifier.urihttps://repository.hanyang.ac.kr/handle/20.500.11754/114014-
dc.description.abstractWilson's disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutation. The frequency of WD is about 1 in 30 000 worldwide. In the present study, we screened 14 835 dried blood spots (DBSs) from asymptomatic Korean neonates and retrospectively reviewed massively parallel sequencing of 1090 control individuals to estimate carrier frequency. TaqMan real-time PCR assays were conducted to detect six mutations that account for 58.3% of mutations in Korean WD patients: c. 2333G> T (p.Arg778Leu), c.2621C> T (p.Ala874Val), c.3086C> T (p.Thr1029Ile), c.3247C> T (p.Leu1083Phe), c.3556G> A (p.Gly1186Ser) and c.3809A> G (p.Asn1270Ser). We also retrospectively reviewed data from 1090 individuals with various indications other than WD for whom whole-exome or panel sequencing data were available. Mutant allele frequency based on the six most common mutations was 0.0067 among the total of 14 835 DBSs screened. Given that these six mutations account for 58.3% of mutations in Korean WD patients, the corrected mutant allele frequency is 0.0115 (95% confidence interval (CI): 0.0103-0.0128). Corresponding incidence (q(2)) and carrier frequency (2pq) were estimated to be 1: 7561 and 1: 44, respectively. In retrospective data analysis of 1090 control individuals, allele frequency of pathogenic or likely pathogenic variants was 0.0096 (95% CI: 0.0063-0.0146). Corresponding carrier frequency was estimated to be 1: 53. Estimated allele and carrier frequencies based on DNA screening were relatively higher than those reported previously based on clinical ascertainment.en_US
dc.description.sponsorshipThis study was supported by a grant from the Korean Ministry of Trade, Industry and Energy (10053626).en_US
dc.language.isoen_USen_US
dc.publisherNATURE PUBLISHING GROUPen_US
dc.subjectPHENOTYPE CORRELATIONen_US
dc.subjectBLOOD SPOTSen_US
dc.subjectATP7B GENEen_US
dc.subjectMUTATIONSen_US
dc.subjectIDENTIFICATIONen_US
dc.subjectCERULOPLASMINen_US
dc.subjectGENOTYPEen_US
dc.subjectJAPANESEen_US
dc.titleCarrier frequency of Wilson's disease in the Korean population: a DNA-based approachen_US
dc.typeArticleen_US
dc.relation.no9-
dc.relation.volume62-
dc.identifier.doi10.1038/jhg.2017.49-
dc.relation.page815-818-
dc.relation.journalJOURNAL OF HUMAN GENETICS-
dc.contributor.googleauthorJang, Ja-Hyun-
dc.contributor.googleauthorLee, Taeheon-
dc.contributor.googleauthorBang, Sunghee-
dc.contributor.googleauthorKim, Young-Eun-
dc.contributor.googleauthorCho, Eun-Hae-
dc.relation.code2017003536-
dc.sector.campusS-
dc.sector.daehakCOLLEGE OF MEDICINE[S]-
dc.sector.departmentDEPARTMENT OF MEDICINE-
dc.identifier.pidyoung0eun-
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COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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