Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Jang, Ja-Hyun | - |
dc.contributor.author | Lee, Taeheon | - |
dc.contributor.author | Bang, Sunghee | - |
dc.contributor.author | Kim, Young Eun | - |
dc.contributor.author | Cho, Eun-Hae | - |
dc.date.accessioned | 2022-07-14T03:36:22Z | - |
dc.date.available | 2022-07-14T03:36:22Z | - |
dc.date.created | 2021-05-14 | - |
dc.date.issued | 2017-05 | - |
dc.identifier.issn | 1434-5161 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/152368 | - |
dc.description.abstract | Wilson'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. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | NATURE PUBLISHING GROUP | - |
dc.title | Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Kim, Young Eun | - |
dc.identifier.doi | 10.1038/jhg.2017.49 | - |
dc.identifier.scopusid | 2-s2.0-85028353499 | - |
dc.identifier.wosid | 000408577600003 | - |
dc.identifier.bibliographicCitation | JOURNAL OF HUMAN GENETICS, v.62, pp.815 - 818 | - |
dc.relation.isPartOf | JOURNAL OF HUMAN GENETICS | - |
dc.citation.title | JOURNAL OF HUMAN GENETICS | - |
dc.citation.volume | 62 | - |
dc.citation.startPage | 815 | - |
dc.citation.endPage | 818 | - |
dc.type.rims | ART | - |
dc.type.docType | 정기학술지(Article(Perspective Article포함)) | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.subject.keywordPlus | PHENOTYPE CORRELATION | - |
dc.subject.keywordPlus | BLOOD SPOTS | - |
dc.subject.keywordPlus | ATP7B GENE | - |
dc.subject.keywordPlus | MUTATIONS | - |
dc.subject.keywordPlus | IDENTIFICATION | - |
dc.subject.keywordPlus | CERULOPLASMIN | - |
dc.subject.keywordPlus | GENOTYPE | - |
dc.subject.keywordPlus | JAPANESE | - |
dc.identifier.url | https://www.nature.com/articles/jhg201749 | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
222, Wangsimni-ro, Seongdong-gu, Seoul, 04763, Korea+82-2-2220-1365
COPYRIGHT © 2021 HANYANG UNIVERSITY.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.