The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.

Abstract excerpt

A G-to-T substitution at the 3'-splice site of intron 5 in the beta-hexosaminidase alpha-subunit gene has been identified among Japanese patients with infantile Tay-Sachs disease. Of the 24 patients from 24 unrelated families, 15 were homozygous and 8 were heterozygous for this mutation (38/48 mutant alleles). The mutation causes a splicing abnormality, and the resultant mRNA lacks the exon 6 sequence. Northern...

Topics

• Base Sequence
• Blotting, Northern
• Cells, Cultured
• Cytosine
• DNA
• DNA Mutational Analysis
• Exons
• Female
• Guanine
• Humans
• Infant