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 language | English |
|---|---|
| Number of pages | 1 |
| Journal | Japanese Journal of Human Genetics |
| Volume | 42 |
| Issue number | 1 |
| Publication status | Published - Dec 1 1997 |
| Externally published | Yes |
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All Science Journal Classification (ASJC) codes
- Genetics(clinical)
Cite this
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 journal › Article
}
TY - JOUR
T1 - Molecular analysis of familial hypotransferrinemia
AU - Senjü, Midnri Asada
AU - Maeda, Toyoki
AU - Wada, Yoshinao
AU - Hayashi, Akira
AU - Suzuki, Tomokau
PY - 1997/12/1
Y1 - 1997/12/1
N2 - 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.
AB - 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.
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M3 - Article
VL - 42
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 1
ER -