Please use this identifier to cite or link to this item: https://doi.org/10.1007/s100380200084
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dc.titleComparative study on deletions of the dystrophin gene in three asian populations
dc.contributor.authorLai, P.-S.
dc.contributor.authorTakeshima, Y.
dc.contributor.authorAdachi, K.
dc.contributor.authorVan Tran, K.
dc.contributor.authorNguyen, H.T.
dc.contributor.authorLow, P.-S.
dc.contributor.authorMatsuo, M.
dc.date.accessioned2014-11-06T08:50:58Z
dc.date.available2014-11-06T08:50:58Z
dc.date.issued2002
dc.identifier.citationLai, P.-S., Takeshima, Y., Adachi, K., Van Tran, K., Nguyen, H.T., Low, P.-S., Matsuo, M. (2002). Comparative study on deletions of the dystrophin gene in three asian populations. Journal of Human Genetics 47 (10) : 552-555. ScholarBank@NUS Repository. https://doi.org/10.1007/s100380200084
dc.identifier.issn14345161
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/107549
dc.description.abstractThe frequency and distribution of deletions of 19 deletion-prone exons clustered in two hot spots in the proximal and central regions of the dystrophin gene were compared in three populations from Singaporean, Japan, and Vietnam. DNA samples obtained from 105 Singaporean, 86 Japanese, and 34 Vietnamese Duchenne muscular dystrophy patients were examined by polymerase chain reaction amplification. Deletions of the examined exons were found in 51.2% of Japanese patients but in 40.0% or less of the Singaporeans and Vietnamese. About two thirds of the deletions were localized in the central region and the remaining deletions were clustered at the proximal region. The most commonly deleted exons at the central deletion hot spot were exon 50 in the Singaporean, exons 49 and 50 in the Japanese, and exon 51 in the Vietnamese population. At the proximal deletion hot spot, the most commonly deleted exons were exons 6 and 8 in the Singaporeans, exons 12 and 17 in the Japanese, and exons 8 and 12 in the Vietnamese. Two cases each from Singapore and Japan had large-scale gross mutations spanning both deletion hot spots. Our results suggest that, although the presence and frequency of the two deletion hot spots may be similar in the three Asian populations analyzed, the distribution and frequency of deletions among the different exons can vary as a result of population-specific intronic sequences that predispose individuals to preferential deletion breakpoints.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1007/s100380200084
dc.sourceScopus
dc.subjectAsian populations
dc.subjectDeletion frequencies
dc.subjectDuchenne muscular dystrophy
dc.subjectDystrophin gene
dc.subjectJapanese
dc.subjectSingaporean
dc.subjectVietnamese
dc.typeArticle
dc.contributor.departmentPAEDIATRICS
dc.description.doi10.1007/s100380200084
dc.description.sourcetitleJournal of Human Genetics
dc.description.volume47
dc.description.issue10
dc.description.page552-555
dc.description.codenJHGEF
dc.identifier.isiut000178567100010
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