Molecular analysis of familial hypotransferrinemia

Midnri Asada Senjü, Toyoki Maeda, Yoshinao Wada, Akira Hayashi, Tomokau Suzuki

Research output: Contribution to journalArticle

Abstract

We previously reported a clinical course of a patient with familial hypotransferrinemia for 20 years from seven years of age, who was suffered from severe anemia and growth retardation deduced from the trace level of serum TF (transferrin). The isoelcctric focusing study revealed that his father's scrum TF had an abnormal isoelcctric point. Nucleotide sequence analysis of the TF gene revealed that the propositas was a compound hétérozygote of a maternal null allelc concomitant with a synonymous mutation, a C to T transition at the position 760, and a paternal mutant allele with a G to A transition at the position 1210 changing glutamic acid to lysine at the amino acid residue 404. The paternal mutation was not thought to be a polymorphism, because this mutation was not found among 100 people analyzed with PCR-RFLP. Further study is necessary to delineate the maternal unknown null mutation.

Original languageEnglish
Number of pages1
JournalJapanese Journal of Human Genetics
Volume42
Issue number1
Publication statusPublished - Dec 1 1997
Externally publishedYes

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Transferrin
Mutation
Mothers
Fathers
Restriction Fragment Length Polymorphisms
Lysine
Sequence Analysis
Anemia
Glutamic Acid
Alleles
Amino Acids
Polymerase Chain Reaction
Growth
Serum
Genes
Congenital atransferrinemia

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Senjü, M. A., Maeda, T., Wada, Y., Hayashi, A., & Suzuki, T. (1997). Molecular analysis of familial hypotransferrinemia. Japanese Journal of Human Genetics, 42(1).

Molecular analysis of familial hypotransferrinemia. / Senjü, Midnri Asada; Maeda, Toyoki; Wada, Yoshinao; Hayashi, Akira; Suzuki, Tomokau.

In: Japanese Journal of Human Genetics, Vol. 42, No. 1, 01.12.1997.

Research output: Contribution to journalArticle

Senjü, MA, Maeda, T, Wada, Y, Hayashi, A & Suzuki, T 1997, 'Molecular analysis of familial hypotransferrinemia', Japanese Journal of Human Genetics, vol. 42, no. 1.
Senjü, Midnri Asada ; Maeda, Toyoki ; Wada, Yoshinao ; Hayashi, Akira ; Suzuki, Tomokau. / Molecular analysis of familial hypotransferrinemia. In: Japanese Journal of Human Genetics. 1997 ; Vol. 42, No. 1.
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