Whereas two mutations in the ASPA gene account for more than 98% of all mutant alleles causing Canavan disease in the Ashkenazi Jewish population, many different mutations can be found in non-Jewish individuals with Canavan disease. In our investigation of 40 non-Jewish patients with Canavan disease, we have found 24 novel mutations and one new polymorphism in the ASPA gene.

On the basis of this experience, it is concluded that the diagnosis of non-Jewish persons with Canavan disease requires sequencing of all exons and their splice sites as well as a search for insertions and deletions. When mRNA cannot be found so that cDNA is unavailable for sequencing, it may be possible to use polymorphisms in place of the actual mutations for prenatal diagnosis.

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