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Simultaneous Detection of ACP1 and GC Genotypes Using PCR/SSCP
Authors:J. Dissing   M. Thymann   D. Hopkinson
Affiliation:Institute of Forensic Medicine, University of Copenhagen, Denmark;Human Biochemical Genetics Unit, The Galton Laboratory, University College London, UK
Abstract:The classical enzyme and protein markers ACP1 and GC have gained new importance because of the biological functions of their gene products. ACP1 encodes a low molecular weight enzyme which is now recognized as a phosphotyrosine phosphatase with a role in the regulation of signal transduction pathways, and GC‐globulin acts both as a transporter of vitamin D and as a plasma actin scavenger and plays a role in macrophage activation. These two polymorphisms were phenotyped for decades on the basis of electrophoretic isozyme or protein patterns; the gene structures are now known. Nucleotide substitutions determining the common alleles are close enough at each locus to be contained in one short PCR product. We have developed a simple, rapid and reliable multiplex method based on PCR and SSCP which allows the simultaneous determination of the common ACP1 and GC genotypes.
Keywords:ACP1    GC    acid phosphatase    phosphotyrosine phosphatase    group specific component    SSCP    alleles    classical genetic markers
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