Article
Simultaneous detection and screening of T833C and G919A mutations of the cystathionine beta-synthase gene by single-strand conformational polymorphism.
Clinical biochemistry - 1 Oct 1996
Tsai M Y, Hanson N Q, Bignell M K, Schwichtenberg K A
Abstract excerpt
OBJECTIVE: We used single-strand conformational polymorphism (SSCP) to screen for mutations at nucleotides 833 and 919 of the cystathionine beta-synthase (CBS) gene in 13 patients with homocystinuria and 11 of their relatives. METHODS: Exon 8 of genomic DNA was selectively amplified by PCR using...
Topics
- Alleles
- Cystathionine beta-Synthase
- DNA Mutational Analysis
- Family
- Female
- Genetic Testing
- Genotype
- Heterozygote
- Homocystinuria
- Homozygote
- Humans
- Male
- Mutation
- Nucleotides
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational