Article
Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population.
American journal of human genetics - 1 Jul 1991
Jacobson D R, Reveille J D, Buxbaum J N
Abstract excerpt
Transthyretin (TTR) (122 Val----Ile), caused by a point mutation which destroys a MaeIII restriction site, is associated with cardiac amyloidosis in black individuals. To estimate the frequency of the MaeIII(-) gene in the black population without overt cardiac disease, DNA from 177 black individuals without amyloidosis was amplified by the PCR around TTR codon 122 and was digested with MaeIII. The MaeIII(-) gene...
Topics
- Amino Acid Sequence
- Antigenic Variation
- Black People
- Gene Frequency
- HLA-DQ Antigens
- HLA-DR Antigens
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction