Molecular Genetics

P. A. Lalley, M. C. Rattazzi, and T. B. Shows (1974) and F. Gilbert and colleagues (1975) used somatic cell hybrids to determine that the hex A gene is linked to genes on chromosome 15. Using the same technology, but with cells from a person with a translocation of the distal half of the long arm (q) of chromosome 15 to chromosome 17, C. J. Chern and colleagues (1977) were able to assign the hex A gene to the q22-qter region of chromosome 15. R. Myerowitz and colleagues (1985) isolated a cDNA clone (a copy of a particular length of DNA) that contains the entire hex A gene. This cDNA clone can be used as a "probe" to look for variants of the normal Hex A gene. Myerowitz and N. D. Hogikyan (1986) used the probe to find that different mutations of the Hex A gene result in TSD in Ashkenazi Jews and non-Jewish French Canadians. H. Nakai, M. G. Byers, and Shows (1987) also used this probe to narrow down the location of the hex A gene to 15q23-q24. B. L. Triggs-Raine and colleagues (1989) used molecular genetic techniques to screen for TSD gene variants in the Ashkenazi Jewish population, and in the Ashkenazi Jews tested they found two different mutations of the hex A gene that result in the usual infantile onset TSD. They also found a different mutation of the hex A gene that gives rise to a rare adult-onset TSD. The use of molecular genetic methods is leading to a more complete understanding of the genetic basis of TSD (see Tanaka et al. 1990).

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