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Haplotyping the human leukocyte antigen system from single chromosomes

Murphy, N.M., Burton, M., Powell, D.R., Rossello, F.J., Cooper, D., Chopra, A., Hsieh, M.J., Sayer, D.C., Gordon, L., Pertile, M.D., Tait, B.D., Irving, H.R. and Pouton, C.W. (2016) Haplotyping the human leukocyte antigen system from single chromosomes. Scientific Reports, 6 . p. 30381.

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We describe a method for determining the parental HLA haplotypes of a single individual without recourse to conventional segregation genetics. Blood samples were cultured to identify and sort chromosome 6 by bivariate flow cytometry. Single chromosome 6 amplification products were confirmed with a single nucleotide polymorphism (SNP) array and verified by deep sequencing to enable assignment of both alleles at the HLA loci, defining the two haplotypes. This study exemplifies a rapid and efficient method of haplotyping that can be applied to any chromosome pair, or indeed all chromosome pairs, using a single sorting operation. The method represents a cost-effective approach to complete phasing of SNPs, which will facilitate a deeper understanding of the links between SNPs, gene regulation and protein function.

Item Type: Journal Article
Murdoch Affiliation(s): Institute for Immunology and Infectious Diseases
Publisher: Springer Nature
Copyright: © 2016 Macmillan Publishers Limited
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