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 |
| _version_ | 1811683508182056960 |
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| author | Chan, Hwee Sing. |
| author2 | Law, Alex Sai-Kit |
| author_facet | Law, Alex Sai-Kit Chan, Hwee Sing. |
| author_sort | Chan, Hwee Sing. |
| collection | NTU |
| 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. |
| first_indexed | 2024-10-01T04:13:51Z |
| format | Thesis |
| id | ntu-10356/6562 |
| institution | Nanyang Technological University |
| last_indexed | 2024-10-01T04:13:51Z |
| publishDate | 2008 |
| record_format | dspace |
| spelling | ntu-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 |
| spellingShingle | DRNTU::Science::Biological sciences Chan, Hwee Sing. Identification of new mutation in a lad patient. |
| title | 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_short | Identification of new mutation in a lad patient. |
| title_sort | identification of new mutation in a lad patient |
| topic | DRNTU::Science::Biological sciences |
| url | http://hdl.handle.net/10356/6562 |
| work_keys_str_mv | AT chanhweesing identificationofnewmutationinaladpatient |