Simultaneous Detection of ACP1 and GC Genotypes Using PCR/SSCP |
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Authors: | J. Dissing M. Thymann D. Hopkinson |
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Affiliation: | Institute of Forensic Medicine, University of Copenhagen, Denmark;Human Biochemical Genetics Unit, The Galton Laboratory, University College London, UK |
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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. |
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Keywords: | ACP1 GC acid phosphatase phosphotyrosine phosphatase group specific component SSCP alleles classical genetic markers |
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