Article
An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover.
Annals of human genetics - 1 Jan 1994
Hirschhorn R, Yang D R, Israni A
Abstract excerpt
We have now determined the molecular genetic basis for the common biochemical polymorphism at the adenosine deaminase (ADA) locus. The ADA*2 allele contains a G to A transition at nt22 (relative to the ATG) that results in substitution of asparagine for aspartic acid at codon 8 (Asp8Asn). Introdu...
Topics
- Adenosine Deaminase
- Alleles
- Asparagine
- Base Sequence
- Cell Line
- Crossing Over, Genetic
- Exons
- Female
- Genes
- Genetic Variation
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Pedigree
- Point Mutation
- Polymorphism, Genetic