Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.

Abstract excerpt

Two novel mutations of the beta-hexosaminidase alpha subunit gene were identified in Japanese patients with the infantile form of Tay-Sachs disease. One mutation was a one-base deletion at nt613C, which generated a stop codon at two codons downstream, in three unrelated patients. The other mutation was a one-base substitution of G-to-A at IVS 5, +1, which caused a splicing abnormality, in one patient. A missense...

Topics

• Base Sequence
• Cells, Cultured
• DNA Primers
• Genetic Testing
• Humans
• Mutation
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational
• Tay-Sachs Disease
• beta-N-Acetylhexosaminidases