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Genetic of skin pigmentation disorders
ZLÁMALOVÁ, Aneta
Genetic skin disorders are one of the most common diseases. However, they may not be strictly related to skin diseases. There are many diseases that manifest on the skin, but from a diagnostic standpoint, they have nothing to do with the skin. This bachelor thesis deals with the skin and its most frequent diseases. Furthermore, related autoimmune diseases and genetics. Vitiligo is a disease that is associated with a melanocyte disorder in which pigment is formed and white spots appear on the skin. Morbus Darier is a skin disease characterized by warts on the body. Sores are usually yellowish in color, are touch sensitive, slightly oily and can produce a strong odor. In the methodological part, this bachelor thesis deals with the analysis of the FOXD3 gene for Vitiligo, which has one large exon and analysis of the twelfth exon in the ATP2A2 gene for Morbus Darier. Two probands were available for each disease. DNA analysis was used to analyze the sample, followed by PCR, Sanger sequencing and BioEdit and NCBI database evaluation. However, no mutation in any of the investigated sections was detected in either proband.
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