Biomaterial Database

Mutational basis of adenine phosphoribosyltransferase deficiency. 1991

A Sahota, and J Chen, and P J Stambrook, and J A Tischfield

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202.

The mutational basis of APRT deficiency was studied in non-Japanese and Japanese patients. Fifteen different mutations have been identified altogether. Of these 4 were common, 6 were located in exon 3, and two at the exon 4-intron 4 junction. The common mutations were a missense mutation in exon 3 (asp65----val) and a T insertion at the exon 4-intron 4 junction in non-Japanese patients, a nonsense mutation in exon 3 (trp98----end) in Type I Japanese patients, and an exon 5 missense mutation (met136----thr) in Type II patients. The other mutations in Type I patients consisted mainly of single base changes and small deletions.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D006579	Heterozygote	An individual having different alleles at one or more loci regarding a specific character.	Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006720	Homozygote	An individual in which both alleles at a given locus are identical.	Homozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000228	Adenine Phosphoribosyltransferase	An enzyme catalyzing the formation of AMP from adenine and phosphoribosylpyrophosphate. It can act as a salvage enzyme for recycling of adenine into nucleic acids. EC 2.4.2.7.	AMP Pyrophosphorylase,Transphosphoribosidase,APRTase,Phosphoribosyltransferase, Adenine,Pyrophosphorylase, AMP
D000483	Alleles	Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.	Allelomorphs,Allele,Allelomorph
D000595	Amino Acid Sequence	The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.	Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
D001483	Base Sequence	The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.	DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA