A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease

Autor:	Alessandro Salviati, Monica Mottes, Chiara Perusi, Rosanna Gatti, P.F. Pignatti, Nicolo' Rizzuto, Macarena Gomez-Lira
Rok vydání:	2001
Předmět:	Male Nonsense mutation Sandhoff disease Biology medicine.disease_cause Polymerase Chain Reaction Frameshift mutation Exon Hexosaminidase B Gangliosidoses GM2 Infantile Sandhoff disease medicine Humans stop codon mutation RNA Messenger Frameshift Mutation Molecular Biology Sequence Deletion Genetics Mutation Base Sequence Infant Sandhoff Disease Cell Biology medicine.disease Molecular biology beta-N-Acetylhexosaminidases Stop codon HEXB Codon Terminator Heteroduplex
Zdroj:	Molecular and Cellular Probes. 15:75-79
ISSN:	0890-8508
Popis:	We present the molecular genetic analysis of an infantile-onset Sandhoff disease patient. Genomic DNA amplification, heteroduplex analysis, cloning and sequencing revealed a 4-bp deletion in exon 4 (497 ΔAGTT). The result is a frameshift mutation that leads to a stop codon in exon 5. This mutation is associated with a dramatic decrease of HEXB mRNA levels.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cea80de98d3f1b540aa9905ba54d2ae5 https://doi.org/10.1006/mcpr.2000.0342 Zobrazit plný text záznamu Full Text from ScienceDirect