Article
A G-->A substitution in an HNF I binding site in the human alpha-fetoprotein gene is associated with hereditary persistence of alpha-fetoprotein (HPAFP).
Human molecular genetics - 1 Apr 1993
McVey J H, Michaelides K, Hansen L P, Ferguson-Smith M, Tilghman S, Krumlauf R, Tuddenham E G
Abstract excerpt
A family displaying hereditary persistence of alpha-fetoprotein (HPAFP) in adult life was detected in an antenatal screening programme for spina bifida. RFLP linkage analysis shows that the trait is linked with the albumin-AFP locus. The molecular mechanism responsible for the post-natal repressi...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- Chloramphenicol O-Acetyltransferase
- DNA
- DNA Mutational Analysis
- Gene Expression
- Humans
- Molecular Sequence Data
- Point Mutation
- Promoter Regions, Genetic
- alpha-Fetoproteins