-transparent.png){kind=logo}
Abnormal beta-hexosaminidase alpha chain mRNAs from an Ashkenazi Jewish patient with the classical infantile Tay-Sachs disease contained intact or truncated intron 12 sequences. Sequence analysis showed a single nucleotide transversion at the 5' donor site of intron 12 from the normal G to C. This provides the first evidence that this junctional mutation, also found independently in two other laboratories by analysis of genomic clones, results in functional abnormality. Analysis with normal and mutant oligonucleotides as probes indicated that our patient was a compound heterozygote with only one allele having the transversion. The patient studied in the other two laboratories was also a compound heterozygote. Another Ashkenazi Jewish patient was normal in this region in both alleles. Thus, the splicing defect is the underlying genetic cause in some but not all Ashkenazi Jewish patients with Tay-Sachs disease.
K Ohno, and
K Suzuki
February 1988,
The Journal of biological chemistry,
K Ohno, and
K Suzuki
January 1998,
Ryoikibetsu shokogun shirizu,
K Ohno, and
K Suzuki
December 1988,
The Journal of biological chemistry,
K Ohno, and
K Suzuki
June 1987,
American journal of human genetics,
K Ohno, and
K Suzuki
January 1992,
Human mutation,
K Ohno, and
K Suzuki
September 1984,
Proceedings of the National Academy of Sciences of the United States of America,
K Ohno, and
K Suzuki
June 1986,
Science (New York, N.Y.),
K Ohno, and
K Suzuki
October 1992,
American journal of human genetics,
K Ohno, and
K Suzuki
March 1991,
American journal of human genetics,
K Ohno, and
K Suzuki
April 1990,
Analytical biochemistry,
