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Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosamimiria

✍ Scribed by Kunihiro Yoshida; Nobuo Yanagisawa; Akihiro Oshima; Hitoshi Sakuraba; Yôichi Iida; Yoshiyuki Suzuki

Book ID: 104666263
Publisher: Springer
Year: 1992
Tongue: English
Weight: 268 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00210771

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✦ Synopsis

Molecular analysis of the glycoasparaginase gene was performed on two Japanese siblings with aspartylglucosaminuria. The cDNA from one patient contained 7 additional bases between exons 3 and 4 (3'-terminal sequence of intron 3). This insertion resulted in a frame shift, and a termination codon appeared at amino acid 146. Amplification and sequencing of genomic DNA detected a single base transition (A-->G) at the 5' side adjacent to the insertion sequence. This mutation created a consensus AG dinucleotide in the splice acceptor site, and produced almost exclusively an abnormal mRNA containing the insertion by alternative splicing. The calculation of the sample score of the acceptor site supported this analytical result. BsmAI restriction site analysis of amplified cDNA and genomic DNA showed that these patients were homozygotes for this mutation. We conclude that the splicing defect in intron 3 causes glycoasparaginase deficiency in these patients.

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