A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene
| Autor: | László Maródi, Vera Gulácsy, Beáta Soltész, Margit Serban, Carmen Petrescu, Mihaela Bataneant, Edit Gyimesi, Beáta Tóth |
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| Rok vydání: | 2014 |
| Předmět: |
Male
Wiskott–Aldrich syndrome Molecular Sequence Data Biology Klinikai orvostudományok Genome Polymerase Chain Reaction Exon INDEL Mutation medicine Humans Deletion mapping Indel Gene Genetics Base Sequence Intron Infant Orvostudományok Hematology General Medicine Exons Sequence Analysis DNA medicine.disease Molecular biology Introns Wiskott-Aldrich Syndrome genomic DNA Leukocytes Mononuclear Wiskott-Aldrich Syndrome Protein |
| Zdroj: | European journal of haematology. 95(1) |
| ISSN: | 1600-0609 |
| Popis: | Deletion mutations of WAS are relatively rare and the precise localization of large deletions in the genome has rarely been described in previous studies. We report here a 5-month-old boy with a large deletion mutation in WAS that completely abolished protein expression. To localize the deletion, a 2816-bp-length sequence that spans between exons 9 and 12 was amplified. PCR amplification of the patient's sample revealed a single band of about 1 kb in contrast to the 2816-bp-amplicon in the control. Genomic DNA sequencing of the patient revealed a 1595-bp-deletion and an adenine insertion (g.5247_6841del1595insA). This large deletion of WAS resulted in partial loss of exon 10 and intron 11, and a complete loss of intron 10 and exon 11. |
| Databáze: | OpenAIRE |
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