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dc.contributor.authorSalvo, Nina Mjølsnes
dc.contributor.authorMathisen, Marie Gule
dc.contributor.authorJanssen, Kirstin
dc.contributor.authorBerg, Thomas
dc.contributor.authorOlsen, Gunn-Hege
dc.date.accessioned2023-01-16T07:15:48Z
dc.date.available2023-01-16T07:15:48Z
dc.date.issued2022-10-18
dc.description.abstractThe regulatory HERC2 SNP, rs12913832, is strongly associated with blue and brown eye colour. However, eye colour in heterozygous rs12913832 individuals is observed to vary greatly. Missense mutations in OCA2, such as rs1800407 and rs74653330, are associated with lighter eye colour in some but not all heterozygous rs12913832 individuals. Determining the physical linkage of these variants might help to further explain eye colour variation. So far, experimental haplotyping of these variants has been challenging because the genomic distance between them (~ 135 kb) exceeds the fragment lengths produced by commonly used DNA isolation kits. The aim for this study was to explore novel methods for long distance haplotyping to assess associations between OCA2-HERC2 haplotypes and eye colour. DNA was isolated from frozen blood samples collected from Norwegians that are known to be heterozygous for both HERC2 rs12913832 and OCA2 SNPs, either rs1800407 (n = 23) or rs74653330 (n = 17), using the newly commercially available Monarch® HMW (heigh molecular weight) DNA Extraction Kit (New England BioLabsinc). We successfully isolated DNA fragments up to 210 kb, which were long enough to haplotype OCA2-HERC2 loci by droplet digital PCR (ddPCR). Three haplotypes were observed in the study population: rs12913832:A-rs1800407:T in 22/23 individuals, rs12913832:A-rs1800407:C in 1/23 individuals and rs12913832:A-rs74653330:T in 16/16 individuals. As expected, all individuals with the rs12913832:A-rs74653330:T haplotype had intermediate to blue eye colour. However, the rs12913832:Ars1800407:T haplotype was observed in both blue and brown-eyed individuals, suggesting more research is needed.en_US
dc.identifier.citationSalvo N, Mathisen MG, Janssen K, Berg T, Olsen G. Experimental long-distance haplotyping of OCA2-HERC2 variants. Forensic Science International: Genetics Supplement Series. 2022en_US
dc.identifier.cristinIDFRIDAID 2068443
dc.identifier.doi10.1016/j.fsigss.2022.10.030
dc.identifier.issn1875-1768
dc.identifier.issn1875-175X
dc.identifier.urihttps://hdl.handle.net/10037/28229
dc.language.isoengen_US
dc.publisherElsevieren_US
dc.relation.ispartofSalvo, N.M. (2024). Forensic DNA phenotyping - Towards reliable and accurate DNA tests for prediction of eye colour, hair colour and biogeographical ancestry. (Doctoral thesis). <a href=https://hdl.handle.net/10037/33807>https://hdl.handle.net/10037/33807</a>
dc.relation.journalForensic Science International: Genetics Supplement Series
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2022 The Author(s)en_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0en_US
dc.rightsAttribution 4.0 International (CC BY 4.0)en_US
dc.titleExperimental long-distance haplotyping of OCA2-HERC2 variantsen_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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Attribution 4.0 International (CC BY 4.0)
Med mindre det står noe annet, er denne innførselens lisens beskrevet som Attribution 4.0 International (CC BY 4.0)