title: A polymorphic marker for the human cathepsin B gene.
abstract: Human cathepsin B (CTSB) is a proteolytic enzyme implicated in tumor invasion and metastasis. We describe a PCR-based polymorphic marker for this gene comprising two amplimers differing in length by 19 consecutive nucleotides in intron 7, near the exon 8 splice acceptor site, identifying two gene alleles (A and B). Allele frequencies were 0.614 for A and 0.386 for the B allele, with an observed heterozygosity of 0.457 in a cohort of 70 non-related Australian blood donors. One additional nucleotide difference was also revealed through sequencing. The human CTSB gene is located on chromosome 8 and the alleles described here can potentially be used as markers in linkage and association studies of cancers and other diseases.
authors.affiliation: Department of Biochemistry and Molecular Biology, the John Curtin School of Medical Research, Australian National University, Canberra, Australia. jason.mackenzie@anu.edu.au
authors.forename: J R
authors.initials: JR
authors.lastname: MacKenzie
authors.forename: S L
authors.initials: SL
authors.lastname: Mason
authors.forename: J G
authors.initials: JG
authors.lastname: Hickford
authors.forename: M R
authors.initials: MR
authors.lastname: Kohonen-Corish
authors.forename: R
authors.initials: R
authors.lastname: Bickerstaffe
mesh_terms: D000483:Alleles; D001315:Australia; D001483:Base Sequence; D002401:Cathepsin B / Q000235:genetics*; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D005091:Exons; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D002401:Cathepsin B