PMID- 19317743
OWN - NLM
STAT- MEDLINE
DCOM- 20090529
LR  - 20211020
IS  - 1399-0039 (Electronic)
IS  - 0001-2815 (Print)
IS  - 0001-2815 (Linking)
VI  - 73
IP  - 4
DP  - 2009 Apr
TI  - A real-time polymerase chain reaction assay for the rapid identification of the 
      autoimmune disease-associated allele HLA-DQB1*0602.
PG  - 335-40
LID - 10.1111/j.1399-0039.2009.01219.x [doi]
AB  - Many autoimmune diseases share a genetic association with the presence or absence 
      of human leukocyte antigen (HLA)-DQB1*0602, including type I diabetes, multiple 
      sclerosis, and narcolepsy. High-resolution HLA typing to determine the presence 
      of this allele is cumbersome and expensive by currently available techniques. We 
      present a real-time polymerase chain reaction (PCR) assay for the identification 
      of HLA-DQB1*0602, using sequence-specific primers and probes, that provides rapid 
      and sensitive identification of this allele, involves minimal hands-on time, and 
      provides major cost savings compared with existing methods. The assay allows the 
      simultaneous determination of both the presence and the number of copies of this 
      allele. Because there is no post-PCR handling, the risk of contamination is 
      avoided. We have validated the assay using 44 blinded and 32 unblinded samples, 
      previously typed by standard techniques, which were identified with 100% 
      accuracy, sensitivity, and specificity. Furthermore, using a narcolepsy cohort of 
      722 subjects, we demonstrated the robustness of the assay to analyze DNA isolated 
      from buccal swabs, demonstrating the applicability of this assay as a suitable 
      approach for population-based studies.
FAU - Gersuk, V H
AU  - Gersuk VH
AD  - Benaroya Research Institute at Virginia Mason, 1201 9th Avenue, Seattle, WA 
      98101, USA. vgersuk@benaroyaresearch.org
FAU - Nepom, G T
AU  - Nepom GT
LA  - eng
GR  - U01 DK061036-07/DK/NIDDK NIH HHS/United States
GR  - U19 AI050864-10/AI/NIAID NIH HHS/United States
GR  - R01 NS038523/NS/NINDS NIH HHS/United States
GR  - U19 AI050864/AI/NIAID NIH HHS/United States
GR  - U01 DK061036/DK/NIDDK NIH HHS/United States
GR  - AI 050864/AI/NIAID NIH HHS/United States
GR  - NS 038523/NS/NINDS NIH HHS/United States
GR  - DK 061036/DK/NIDDK NIH HHS/United States
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (Membrane Glycoproteins)
SB  - IM
MH  - Alleles
MH  - Autoimmune Diseases/*genetics
MH  - Cohort Studies
MH  - Gene Dosage
MH  - HLA-DQ Antigens/*genetics
MH  - HLA-DQ beta-Chains
MH  - Humans
MH  - Membrane Glycoproteins/*genetics
MH  - Polymerase Chain Reaction/*methods
MH  - Reproducibility of Results
PMC - PMC3027491
MID - NIHMS261326
EDAT- 2009/03/26 09:00
MHDA- 2009/05/30 09:00
PMCR- 2011/01/26
CRDT- 2009/03/26 09:00
PHST- 2009/03/26 09:00 [entrez]
PHST- 2009/03/26 09:00 [pubmed]
PHST- 2009/05/30 09:00 [medline]
PHST- 2011/01/26 00:00 [pmc-release]
AID - TAN1219 [pii]
AID - 10.1111/j.1399-0039.2009.01219.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2009 Apr;73(4):335-40. doi: 10.1111/j.1399-0039.2009.01219.x.