Molecular characterization of a case of atransferrinemia.

摘要: Hereditary atransferrinemia is a rare but instructive disorder that has previously been reported in only 8 patients 6 families. It characterized by microcytic anemia and iron loading, can be treated effectively plasma infusions. We now report the first case known United States. determined sequences flanking exons of human transferrin gene sequenced all some regions patient's DNA her parents. The revealed 10-base pair (bp) deletion, followed 9-bp insertion duplicated sequence. There was also G-->C transversion at complementary (cDNA) nt 1429, predicting proline substituted for alanine amino acid position 477 (Ala Pro). latter mutation occurs an evolutionarily highly conserved site; 704 control alleles were screened this point not found. Each genes contains one mutation, ie, patient compound heterozygote these mutations, because found each In addition to which we regard causative atransferrinemia, silent polymorphism cDNA 1572 exon 13 as well 2 unreported polymorphisms IVS8 + 62 c-->t IVS14-4 c-->a. intron common general population; 14 rare.