Article
DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.
American journal of human genetics - 1 May 1992
Bartels C F, Jensen F S, Lockridge O, van der Spek A F, Rubinstein H M, Lubrano T, La Du B N
Abstract excerpt
Genomic DNA from two families exhibiting the K-variant phenotype of serum butyrylcholinesterase was amplified by PCR and sequenced to determine the molecular basis of this variant. The K-variant phenotype was found to be associated with a DNA transition from guanine to adenine at nucleotide 1615,...
Topics
- Amino Acid Sequence
- Base Sequence
- Butyrylcholinesterase
- Female
- Genetic Linkage
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Temperature