Article
Identification of a mutation (A1879G) of transferrin from cDNA prepared from peripheral blood cells.
Annals of human genetics - 1 May 1998
Pang H, Koda Y, Soejima M, Kimura H
Abstract excerpt
We have prepared a transferrin (TF) cDNA from total RNA of peripheral blood cells of an individual with a TF B variant (TF Bv) phenotype to analyze the molecular basis for the TF Bv. The TF B variant allele (TF Bv) was found to contain an A to G transition at nucleotide 1879 in the coding region that may result in substitution of glutamic acid for lysine at codon 627 located in exon 16. In addition, a transient...
Topics
- Animals
- Base Sequence
- Blood Cells
- COS Cells
- DNA Primers
- DNA, Complementary
- Heterozygote
- Humans
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length