Detection of polymorphisms in exon 2 of human glucocorticoid receptor gene (NR3C1) using polymerase chain reaction (PCR) / Afiqah Ahmad
There are three documented polymorphisms in exon 2 of Human Glucocorticoid Receptor gene (NR3Cl). These include ER22/23EK, N363S and Bell. ER22/23EK induces glucocorticoid resistance while N363S and Bell cause hypersensitivity towards glucocorticoids. A probable novel SNP (C408 l 4T) has been detect...
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| Format: | Thesis |
| Language: | English |
| Published: |
2014
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| Subjects: | |
| Online Access: | https://ir.uitm.edu.my/id/eprint/111123/1/111123.PDF https://ir.uitm.edu.my/id/eprint/111123/ |
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| Summary: | There are three documented polymorphisms in exon 2 of Human Glucocorticoid Receptor gene (NR3Cl). These include ER22/23EK, N363S and Bell. ER22/23EK induces glucocorticoid resistance while N363S and Bell cause hypersensitivity towards glucocorticoids. A probable novel SNP (C408 l 4T) has been detected in a sample where it produces a synonymous mutation with no change in the amino acid. AS-PCR can be done in the future to screen larger group of samples to validate the presence of this SNP. |
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