Inheritance and genetic linkage of transcobalamin II
- 1 May 1981
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 57 (3) , 307-311
- https://doi.org/10.1007/bf00278950
Abstract
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.Keywords
This publication has 22 references indexed in Scilit:
- Family studies with the chromosome 9 markers ABO, AK1, ACONs and 9qhAnnals of Human Genetics, 1977
- Assignment of the AK1:Np:ABO linkage group to human chromosome 9.Proceedings of the National Academy of Sciences, 1976
- The Three Transcobalamins in Myeloproliferative Disorders and Acute LeukaemiaBritish Journal of Haematology, 1975
- Human vitamin B12 transport proteins.1975
- Vitamin B12 transport in blood. I. Congenital deficiency of transcobalamin II.1975
- Clinical Chemistry: Characterization of R-Type Vitamin B12-Binding Proteins by Isoelectric FocusingScandinavian Journal of Clinical and Laboratory Investigation, 1975
- Hereditary transcobalamin II deficiency: Clinical findings in a new familyThe Journal of Pediatrics, 1974
- Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.1974
- Neonatal Megaloblastic Anemia Due to Inherited Transcobalamin II Deficiency in Two SiblingsNew England Journal of Medicine, 1971
- Distribution and elimination of exogenous alpha1-antitrypsin.1970