HFE genotyping using multiplex allele-specific polymerase chain reaction and capillary electrophoresis.
作者信息
Lubin I M, Yamada N A, Stansel R M, Pace R G, Rohlfs E M, Silverman L M
机构信息
Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
出版信息
Arch Pathol Lab Med. 1999 Dec;123(12):1177-81. doi: 10.1043/1543-2165-123.20.1177.
CONTEXT
Hereditary hemochromatosis is recognized as one of the most common autosomal recessive disorders, with a prevalence of 1 in 200 to 400 in the white population. Early detection and treatment are completely effective in preventing pathology. It is anticipated that testing for hereditary hemochromatosis will increase, as will the need for a technology that can handle the demand.
OBJECTIVE
To describe a high-throughput, single-tube, allele-specific multiplex polymerase chain reaction assay for identifying the 2 mutations in the HFE gene associated with hereditary hemochromatosis.
DESIGN
Fluorescence-labeled polymerase chain reaction products from a multiplex polymerase chain reaction are analyzed by automated capillary electrophoresis.
DATA ANALYSIS
The assay was validated by analysis of 25 blinded samples, and results were concordant with an established laboratory assay.
CONCLUSION
The assay described offers a significant improvement over manual laboratory assays in throughput, reduced technologist time, and cost.
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