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...
Main Author: | |
---|---|
Other Authors: | |
Format: | Thesis |
Published: |
2008
|
Subjects: | |
Online Access: | http://hdl.handle.net/10356/6562 |
_version_ | 1811683508182056960 |
---|---|
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 |