Tags

Type your tag names separated by a space and hit enter

[Transcobalamine-II-polymorphism: biochemical and clinical aspects of rare variants].
Schweiz Med Wochenschr. 1979 Sep 29; 109(37):1373-5.SM

Abstract

Transcobalamin II(TC II) is an essential transport protein for vitamin B12 in blood. TC II can be split up into isoproteins by polyacrylamide gel electrophoresis. Family studies are compatible with a genetic polymorphism of TC II and a five allele system. Screening of TC II isoprotein patterns in about 1000 individuals yielded two unusual TC II variants: The first case was a black female with severe megaloblastic anemia since infancy. Her TC II was elevated and bound B12, but displayed markedly diminished functional capacity to transfer radioactive cyanocobalamin in cellular systems. Comparison of this patient's TC II isoprotein pattern with known variants showed a distinct difference in electrophoretic mobility, indicating the presence of a sixth allele. The second patient, also presenting with pernicious anemia-like symptoms, was found to possess an unusual TC II variant with reduced TC II serum levels. Corresponding variants were also observed in the patient's asymptomatic children. Thus, abnormal TC II variants probably causing megaloblastic anemias both correlated with unusual isoprotein patterns.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

ger

PubMed ID

482908

Citation

Fràter-Schröder, M, et al. "[Transcobalamine-II-polymorphism: Biochemical and Clinical Aspects of Rare Variants]." Schweizerische Medizinische Wochenschrift, vol. 109, no. 37, 1979, pp. 1373-5.
Fràter-Schröder M, Lüthy R, Haurani FI, et al. [Transcobalamine-II-polymorphism: biochemical and clinical aspects of rare variants]. Schweiz Med Wochenschr. 1979;109(37):1373-5.
Fràter-Schröder, M., Lüthy, R., Haurani, F. I., & Hitzig, W. H. (1979). [Transcobalamine-II-polymorphism: biochemical and clinical aspects of rare variants]. Schweizerische Medizinische Wochenschrift, 109(37), 1373-5.
Fràter-Schröder M, et al. [Transcobalamine-II-polymorphism: Biochemical and Clinical Aspects of Rare Variants]. Schweiz Med Wochenschr. 1979 Sep 29;109(37):1373-5. PubMed PMID: 482908.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Transcobalamine-II-polymorphism: biochemical and clinical aspects of rare variants]. AU - Fràter-Schröder,M, AU - Lüthy,R, AU - Haurani,F I, AU - Hitzig,W H, PY - 1979/9/29/pubmed PY - 1979/9/29/medline PY - 1979/9/29/entrez SP - 1373 EP - 5 JF - Schweizerische medizinische Wochenschrift JO - Schweiz Med Wochenschr VL - 109 IS - 37 N2 - Transcobalamin II(TC II) is an essential transport protein for vitamin B12 in blood. TC II can be split up into isoproteins by polyacrylamide gel electrophoresis. Family studies are compatible with a genetic polymorphism of TC II and a five allele system. Screening of TC II isoprotein patterns in about 1000 individuals yielded two unusual TC II variants: The first case was a black female with severe megaloblastic anemia since infancy. Her TC II was elevated and bound B12, but displayed markedly diminished functional capacity to transfer radioactive cyanocobalamin in cellular systems. Comparison of this patient's TC II isoprotein pattern with known variants showed a distinct difference in electrophoretic mobility, indicating the presence of a sixth allele. The second patient, also presenting with pernicious anemia-like symptoms, was found to possess an unusual TC II variant with reduced TC II serum levels. Corresponding variants were also observed in the patient's asymptomatic children. Thus, abnormal TC II variants probably causing megaloblastic anemias both correlated with unusual isoprotein patterns. SN - 0036-7672 UR - https://www.unboundmedicine.com/medline/citation/482908/[Transcobalamine_II_polymorphism:_biochemical_and_clinical_aspects_of_rare_variants]_ DB - PRIME DP - Unbound Medicine ER -