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PMID: 669722 Published · ppublish English Journal Article

Transferrin: evidence for two common subtypes of the TfC allele.

Human genetics ·Vol. 43 ·No. 1 ·1978-07-12 ·Pages 91-5

Kühnl P, Spielmann W

Abstract

Evidence is presented for an extended polymorphism of human transferrin (Tf). Three common phenotypes were observed among TfC individuals after isoelectric focusing of sera on polyacrylamide gels. They are explained in terms of two subtypes of the TfC allele, tentatively designated TfC1 and TfC2. The distribution of the phenotypes Tf C1, C2-1, and C2 provides a good fit to the Hardy-Weinberg equation. In our population sample (n = 942) the following frequencies were calculated: TfC1 = 0.8195, TfC2 = 0.1720, TfB2 = 0.0064, TfB1-2 = 0.0016, and TfD1 = 0.0005. Family studies (n = 112) indicate an autosomal codominant way of inheritance. The observed subheterogeneity is detectable in purified transferrin after isofocusing and subsequent immunofixation. The subtypes are still present after treatment of sera with neuraminidase.

MeSH Terms
Alleles Electrophoresis, Polyacrylamide Gel Gene Frequency Germany, West Humans Isoelectric Focusing Phenotype Polymorphism, Genetic Transferrin/genetics
Chemicals
Transferrin
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Kühnl P
Spielmann W
References (5)
5 references, click to expand
  1. Variations in human serum beta-globulins.
    Nature. 1957 Dec 28;180(4600):1482-3 PMID: 13493574
  2. Immunofixation. I. General principles and application to agarose gel electrophoresis.
    Clin Chem. 1976 Apr;22(4):497-9 PMID: 56244
  3. [Studies on C'3-polymorphism ( 1c -globulin). Gene frequencies and family studies in blood donors from Hessen and a Bantu population].
    Humangenetik. 1972;15(1):7-13 PMID: 4114799
  4. High voltage agarose gel electrophoresis in the study of C 3 polymorphism.
    Vox Sang. 1970 Jul;19(1):47-56 PMID: 5488658
  5. [Transferrin variants: significance and identification in paternity cases (author's transl)].
    Z Immunitatsforsch Exp Klin Immunol. 1975 Aug;150(1):60-7 PMID: 171873
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1978-07-12
Pages
91-5
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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