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Hsc300 Unit 3

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1) State three genetic diseases that often occurred in adults.

a) Atopic Dermatitis (AD)

Atopic Dermatitis (AD) is a type of eczema by which it manifests in the skin of the whole body. It is classified as an overactive immune response to environmental factors (DermNet NZ 2015). A cardinal feature of AD is a dry skin that makes AD patients suffering. b) Familial Hypercholesterolaemia (FH)

Familial Hypercholesterolaemia (FH) is caused by a gene alteration in which it involved in controlling the amount of cholesterol in the blood (Heart UK The Cholesterol Charity 2015).

c) Breast cancer

Breast cancer is a malignant tumour in the breast by which it can spread to the surrounding tissues or metastasize to distant areas of the body. The breast …show more content…
First, the skin biopsies samples were obtained from AD patients and healthy controls. The RNA was extracted using the acid guanidinium thiocyanate, phenol–chloroform protocol. Then, the samples will be mixed and dissolved to release the RNA. The RNA samples were verified by agarose gel electrophoresis with A260/A280 ratio. The samples were analysed using DNA microarray. Next, the hybridization and analysis of the samples were performed according to microarray experiment guideline. The expression levels of aquaporins were accessed in different cells and tissues. Expression of the AQP1 and AQP3 genes were analysed using real-time PCR. The ribosomal protein large P0 (RPLP0) was selected as reference genes for ACTB, PPIA, GAPD, RPLP0 and RPLP1. The tissue distribution of AQP3 protein was investigated by …show more content…
Then, the functions of these known genes were examined using the Gene Ontology Database to find which genes involved in water transport. As a result, the AQP3 gene was up-regulated in AD samples. The DNA microarray analysis measured 10 different of AQP and resulted in high expression of AQP3 in the samples. This indicates the potential importance of AQP3 in skin hydration. Additionally, only AQP3 was differentially expressed in AD patients compared to healthy controls. The DNA microarray used in this study contained 3 probe sets representing the AQP3 gene, all of which were up-regulated. Real-time PCR analysis verified that AQP3 was up-regulated in AD samples (Olsson

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