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Am J Hum Genet. 1990 Sep;47(3):568-74.

A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).

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  • 1Brain and Development Research Center, University of North Carolina School of Medicine, Chapel Hill 27599-7250.


The abnormality in the gene coding for the beta-hexosaminidase alpha subunit was analyzed in a non-Jewish patient with clinically typical infantile Tay-Sachs disease. The family was Catholic, and the father and the mother were of Irish and German descent, respectively. A hitherto undescribed single nucleotide transversion was found within exon 11 (G1260----C; Trp420----Cys). The coding sequence was otherwise entirely normal. Expression in the COS I cell system confirmed that the mutant gene does not produce functional enzyme protein. The mutation can be identified rapidly and reliably because it abolishes one of the two KpnI sites in the coding sequence. The patient was a compound heterozygote with one allele carrying this mutation. The nature of the abnormality in the other allele remains unidentified. Examination of genomic DNA from the parents demonstrated that this "Kpn mutation" was inherited from the maternal side of the family.

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