Hum Genet. 1993 Feb;90(6):614-20.

A null allele frequent in non-Jewish Tay-Sachs patients.

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Laboratoire de Recherches en Génétique et Pathologie Moléculaires, INSERM, U. 129, CHU Cochin, Paris, France.

Abstract

The molecular basis of null alleles was investigated by cDNA polymerase chain reaction (PCR) in seven Tay-Sachs patients. Although mRNAs were undetectable by Northern blot, cDNA-PCR amplification allowed us to get a sufficient amount of cDNA to characterize abnormal transcripts. In two French patients (one homozygote and one compound heterozygote with a 4-bp insertion in exon 11 of the second allele) suffering an infantile form of the disease, we detected abnormal RNAs with a 17-bp insertion due to a GT to AT transition at the donor site of intron 9, resulting in the activation of a cryptic donor site in the intron. This mutation has been found in 9 out of 82 Tay-Sachs chromosomes (11%) in association with alleles responsible from different clinical courses. In the other five patients we found the 4-bp insertion in exon 11 and two nonsense mutations.

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Cited by 3 PubMed Central articles

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A null allele frequent in non-Jewish Tay-Sachs patients.

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