Article
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
American journal of human genetics - 1 Jun 1991
Mules E H, Dowling C E, Petersen M B, Kazazian H H, Thomas G H
Abstract excerpt
Samples of genomic DNA from three unrelated American black infants having both biochemical and clinical features of classical infantile Tay-Sachs disease were sequenced following PCR amplification. A G----T transversion was observed in the AG acceptor splice site preceding exon 5 of the beta-hexosaminidase alpha-subunit gene in the first black family. This transversion changed the acceptor splice site from the...
Topics
- Base Sequence
- Black People
- DNA
- Heterozygote
- Humans
- Infant
- Introns
- Male
- Molecular Sequence Data
- Mutation
- Pedigree