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.
|Number of pages||1|
|Journal||Japanese Journal of Human Genetics|
|Publication status||Published - 1997|
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