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Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation

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dc.contributor.affiliationsFaculty of Medicine and Health Sciences
dc.contributor.affiliationsUniversiti Sains Islam Malaysia (USIM)
dc.contributor.affiliationsUniversiti Kebangsaan Malaysia (UKM) Medical Centre
dc.contributor.affiliationsUniversiti Kebangsaan Malaysia (UKM)
dc.contributor.authorAlina M.F.en_US
dc.contributor.authorAzma R.Z.en_US
dc.contributor.authorNorunaluwar J.en_US
dc.contributor.authorAzlin I.en_US
dc.contributor.authorDarnina A.J.en_US
dc.contributor.authorCheah F.C.en_US
dc.contributor.authorNoor-Farisah A.R.en_US
dc.contributor.authorSiti-Hawa A.A.en_US
dc.contributor.authorDanny X.R.K.en_US
dc.contributor.authorZulkifli N.F.en_US
dc.contributor.authorAinoon O.en_US
dc.date.accessioned2024-05-29T01:58:56Z
dc.date.available2024-05-29T01:58:56Z
dc.date.issued2020
dc.descriptionAlina, M.F., Azma, R.Z., Norunaluwar, J. et al. Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation. J Hum Genet 65, 263–270 (2020). https://doi.org/10.1038/s10038-019-0700-7en_US
dc.description.abstractG6PD deficiency is the commonest enzyme deficiency found in humans. Current diagnostic methods lack sensitivity to detect all cases of G6PD deficiency. We evaluated the reverse dot blot flow-through hybridisation assay designed to detect simultaneously multiple known G6PD mutations in a group of Malaysian neonates. Archival DNA samples from 141 G6PD-deficient neonates were subjected to reverse dot blot flow-through hybridisation assay using the GenoArray Diagnostic Kit (Hybribio Limited, Hong Kong) and DNA sequencing. The method involved PCR amplification of 5 G6PD exons using biotinylated primers, hybridisation of amplicons to a membrane containing oligoprobes designed for G6PD mutations known to occur in the Malaysian population and colour detection by enzyme immunoassay. The assay detected 13 of the 14 G6PD mutations and genotyped 133 (94.3%) out of 141 (102 males, 39 females) cases. Among the 39 female G6PD-deficient neonates, there were 7 homozygous and 6 compound heterozygous cases. The commonest alleles were G6PD Viangchan 871G > A (21%) and G6PD Mahidol 487G > A(20%) followed by G6PD Mediterranean 563C > T, (14%), G6PD Vanua Lava 383T > C (12%), G6PD Canton 1376G > T (10%), G6PD Orissa 131C > G (6.3%) G6PD Coimbra 592C > T (5.6%) plus 6 other mutations. DNA sequencing of remaining cases revealed 6 cases of intron 11 nt 93C > T not previously reported in Malaysia and two novel mutations, one case each of nt 1361G > T and nt 1030G > A. We found the reverse dot blot assay easy to perform, rapid, accurate and reproducible, potentially becoming an improved diagnostic test for G6PD deficiency. 2019, The Author(s), under exclusive licence to The Japan Society of Human Genetics.en_US
dc.identifier.doi10.1038/s10038-019-0700-7
dc.identifier.epage270
dc.identifier.issn14345161
dc.identifier.issue3
dc.identifier.scopus2-s2.0-85077025511
dc.identifier.scopusWOS:000510855200007
dc.identifier.spage263
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85077025511&doi=10.1038%2fs10038-019-0700-7&partnerID=40&md5=93d6f6b4563aeaf9042d0a96d0914687
dc.identifier.urihttps://www.nature.com/articles/s10038-019-0700-7
dc.identifier.urihttps://oarep.usim.edu.my/handle/123456789/10031
dc.identifier.volume65
dc.languageEnglish
dc.language.isoen_USen_US
dc.publisherSpringer Nature Publishing Groupen_US
dc.relation.ispartofJournal of Human Geneticsen_US
dc.sourceScopus
dc.subjectglucose 6 phosphate dehydrogenaseen_US
dc.subjectampliconen_US
dc.subjectArticleen_US
dc.subjectbiotinylationen_US
dc.subjectDNA sequenceen_US
dc.subjectenzyme immunoassayen_US
dc.subjectexonen_US
dc.subjectfemaleen_US
dc.subjectgene mutationen_US
dc.subjectgenotypeen_US
dc.subjectglucose 6 phosphate dehydrogenase deficiencyen_US
dc.subjectheterozygoteen_US
dc.subjecthomozygoteen_US
dc.subjecthumanen_US
dc.subjecthybridizationen_US
dc.subjectintronen_US
dc.subjectmajor clinical studyen_US
dc.subjectMalaysiaen_US
dc.subjectmaleen_US
dc.subjectmultiplex polymerase chain reactionen_US
dc.titleGenotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisationen_US
dc.typeArticleen_US
dspace.entity.typePublication

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