PMID- 24936514
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140617
LR  - 20211021
IS  - 2324-9269 (Print)
IS  - 2324-9269 (Electronic)
IS  - 2324-9269 (Linking)
VI  - 2
IP  - 3
DP  - 2014 May
TI  - Human leukocyte antigen haplotype phasing by allele-specific enrichment with 
      peptide nucleic acid probes.
PG  - 245-53
LID - 10.1002/mgg3.65 [doi]
AB  - Targeted capture of large fragments of genomic DNA that enrich for human 
      leukocyte antigen (HLA) system haplotypes has utility in haematopoietic stem cell 
      transplantation. Current methods of HLA matching are based on inference or 
      familial studies of inheritance; and each approach has its own inherent 
      limitations. We have designed and tested a probe-target-extraction method for 
      capturing specific HLA haplotypes by hybridization of peptide nucleic acid (PNA) 
      probes to alleles of the HLA-DRB1 gene. Short target fragments contained in 
      plasmids were initially used to optimize the method followed by testing samples 
      of genomic DNA from human subjects with preselected HLA haplotypes and obtained 
      approximately 10% enrichment for the specific haplotype. When performed with 
      high-molecular-weight genomic DNA, 99.0% versus 84.0% alignment match was 
      obtained for the specific haplotype probed. The allele-specific target enrichment 
      that we obtained can facilitate the elucidation of haplotypes between the 65 kb 
      separating the HLA-DRB1 and the HLA-DQA1 genes, potentially spanning a total 
      distance of at least 130 kb. Allele-specific target enrichment with PNA probes is 
      a straightforward technique that has the capability to improve the resolution of 
      DNA and whole genome sequencing technologies by allowing haplotyping of enriched 
      DNA and crucially, retaining the DNA methylation profile.
FAU - Murphy, Nicholas M
AU  - Murphy NM
AD  - Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash 
      University (Parkville Campus) Melbourne, Victoria, 3052, Australia ; Department 
      of Preimplantation Genetic Diagnosis, Melbourne IVF 344 Victoria Parade, East 
      Melbourne, Australia.
FAU - Pouton, Colin W
AU  - Pouton CW
AD  - Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash 
      University (Parkville Campus) Melbourne, Victoria, 3052, Australia.
FAU - Irving, Helen R
AU  - Irving HR
AD  - Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash 
      University (Parkville Campus) Melbourne, Victoria, 3052, Australia.
LA  - eng
PT  - Journal Article
DEP - 20140119
PL  - United States
TA  - Mol Genet Genomic Med
JT  - Molecular genetics & genomic medicine
JID - 101603758
PMC - PMC4049365
OTO - NOTNLM
OT  - HLA haplotype
OT  - HLA matching
OT  - HLA-DRB1
OT  - Haplotyping
OT  - peptide nucleic acid
EDAT- 2014/06/18 06:00
MHDA- 2014/06/18 06:01
PMCR- 2014/05/01
CRDT- 2014/06/18 06:00
PHST- 2013/10/30 00:00 [received]
PHST- 2013/12/10 00:00 [revised]
PHST- 2013/12/17 00:00 [accepted]
PHST- 2014/06/18 06:00 [entrez]
PHST- 2014/06/18 06:00 [pubmed]
PHST- 2014/06/18 06:01 [medline]
PHST- 2014/05/01 00:00 [pmc-release]
AID - 10.1002/mgg3.65 [doi]
PST - ppublish
SO  - Mol Genet Genomic Med. 2014 May;2(3):245-53. doi: 10.1002/mgg3.65. Epub 2014 Jan 
      19.