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Haplotyping the human leukocyte antigen system from single chromosomes
Journal article   Open access   Peer reviewed

Haplotyping the human leukocyte antigen system from single chromosomes

N.M. Murphy, M. Burton, D.R. Powell, F.J. Rossello, D. Cooper, A. Chopra, M.J. Hsieh, D.C. Sayer, L. Gordon, M.D. Pertile, …
Scientific Reports, Vol.6
2016
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Abstract

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.

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Collaboration types
Domestic collaboration
Citation topics
1 Clinical & Life Sciences
1.6 Immunology
1.6.607 MHC Diversity
Web Of Science research areas
Genetics & Heredity
ESI research areas
Molecular Biology & Genetics
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