Inheritance and genetic linkage of transcobalamin II |
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| Authors: | Soo Young Yang Peter Coleman Hans D Ochs Bo Dupont |
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| Institution: | (1) Tissue Typing Laboratory, Sloan-Kettering Institute for Cancer Research, 10021 New York, NY;(2) Laboratory of Biochemistry, Department of Biology, New York University, 10003 New York, NY;(3) Howard Hughes Medical Institute, University of Washington, 98195 Seattle, WA, USA;(4) Department of Pediatrics, University of Washington, 98195 Seattle, WA, USA |
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| Abstract: | Summary The genetic polymorphism of the vitamin B12 transport protein transcobalamin II (TC II) was studied in a Caucasian population and in families. There are five codominent alleles of TC II which show a Mendelian mode of inheritance. No genetic linkage of TC II was found with gene loci for ADA, GLOI, Pi, HLA, AB0 and AK1. TC II like proteints could be detected on autoradiograph of PAGE in two patients with congenital homozygosity for functional TC II deficiency. These vitamin B12 binding proteins in the patients' serum were shown not to be normal R-proteins.Supported in part by grants from U.S. Public Health Service, NCI CA-22507, CA-19267, CA-08748, NIAID AI-07073. A portion of this work was conducted through the Clinical Research Center Facility of the University of Washington (RR-37) |
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