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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sg-ntu-dr.10356-65622023-02-28T18:37:03Z Identification of new mutation in a lad patient. Chan, Hwee Sing. Law, Alex Sai-Kit School of Biological Sciences DRNTU::Science::Biological sciences 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. Master of Science 2008-09-17T11:41:43Z 2008-09-17T11:41:43Z 2005 2005 Thesis http://hdl.handle.net/10356/6562 Nanyang Technological University application/pdf |
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DRNTU::Science::Biological sciences Chan, Hwee Sing. Identification of new mutation in a lad patient. |
| description |
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. |
| author2 |
Law, Alex Sai-Kit |
| author_facet |
Law, Alex Sai-Kit Chan, Hwee Sing. |
| format |
Theses and Dissertations |
| author |
Chan, Hwee Sing. |
| author_sort |
Chan, Hwee Sing. |
| title |
Identification of new mutation in a lad patient. |
| title_short |
Identification of new mutation in a lad patient. |
| title_full |
Identification of new mutation in a lad patient. |
| title_fullStr |
Identification of new mutation in a lad patient. |
| title_full_unstemmed |
Identification of new mutation in a lad patient. |
| title_sort |
identification of new mutation in a lad patient. |
| publishDate |
2008 |
| url |
http://hdl.handle.net/10356/6562 |
| _version_ |
1759854588905652224 |