Phenotypic variations in Xeroderma pigmentosum patients depending on mutation type

Pejković, Mia (2016) Phenotypic variations in Xeroderma pigmentosum patients depending on mutation type. Bachelor's thesis, Faculty of Science > Department of Biology.

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Abstract

Xeroderma pigmentosum (XP) is autosomal recessive disorder caused by inability of repair of damaged DNA, caused by UV-radiation. The features that characterize this disoreder vary, but we can roughly divide them into 4 subgroups, ocular, cutaneous, oral and neurological lesions. There are eight types of this disorder, from XPA to XPG including XPV. Every of XPA to XPG type, carry a mutation in one of genes that take part in nucleotide excison repair (NER), they have mutated genes required to remove UV damage from the DNA. XPV is the only type of XP that has all genes required in NER functional, but it has POLH gene mutated. POLH gene encodes DNA polymerase eta (Pol η), an enzyme vital for replicating DNA containing unrepaired DNA damage, translesion synthesis (TLS). Diagnosis is made based on the presence of severe sunburns at minimal exposure to UV-radiation, appearance of lentiginosis in sun-exposed areas or by developing skin cancers at an unusually young age. The diagnosis is confirmed by cellular tests for defective DNA repair. Life span of XP patients is shorter due to susceptiability for malignance skin changes and progressive neurological abnormalities.

Item Type: Thesis (Bachelor's thesis)
Supervisor: Ivančić Baće, Ivana
Date: 2016
Number of Pages: 23
Subjects: NATURAL SCIENCES > Biology
Divisions: Faculty of Science > Department of Biology
Depositing User: Grozdana Sirotic
Date Deposited: 11 Nov 2016 13:15
Last Modified: 11 Nov 2016 13:15
URI: http://digre.pmf.unizg.hr/id/eprint/5281

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