Identification of new mutation in a lad patient.
Our lab has been approached by a hospital in Austria where they have diagnosed a female patient with a high probability of having the disease LAD-I. They were unable to detect the presence of any integrin beta-2 on the cell surface of her leukocytes. In our study, we have been able to characterized...
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| Format: | Thesis |
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2008
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| Online Access: | http://hdl.handle.net/10356/6562 |
| Summary: | Our lab has been approached by a hospital in Austria where they have diagnosed a female patient with a high probability of having the disease LAD-I. They were unable to detect the presence of any integrin beta-2 on the cell surface of her leukocytes. In our study, we have been able to characterized two novel mutations in the patients' genomic DNA that is causing the condition of LAD-I in her. Firstly, there was a mutation of C --> A in intron 2 which resulted in the ultilization of a new splice site 43 base pairs upstream of the original splice site. There was an incorporation of 11 irrelevant amino acids followed by a premature stop codon. |
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