Gene Expression Profiling of Xeroderma Pigmentosum

Gene Expression Profiling of Xeroderma Pigmentosum

Xeroderma pigmentosum (XP) is a rare recessive disorder that is characterized by extreme sensitivity to UV light. UV light exposure results in the formation of DNA damage such as cyclobutane dimers and (6-4) photoproducts. Nucleotide excision repair (NER) orchestrates the removal of cyclobutane dimers and (6-4) photoproducts as well as some forms of bulky chemical DNA adducts. The disease XP is...

Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure

Children with the recessive genetic disorder Xeroderma Pigmentosum (XP) have extreme sensitivity to UV-light, a 10,000-fold increase in skin cancers from age 2 and rarely live beyond 30 years. There are seven genetic subgroups of XP, which are all resultant of pathogenic mutations in genes in the nucleotide excision repair (NER) pathway and a XP variant resultant of a mutation in translesion sy...

Xeroderma pigmentosum.

Xeroderma pigmentosum.

OBJECTIVE To describe the features of Xeroderma pigmentosum observed in the stage 3 of the disease. STUDY DESIGN Case series. PLACE AND DURATION OF STUDY Mayo Hospital Lahore, from December 2001 to September 2008. METHODOLOGY All patients diagnosed with Xeroderma pigmentosum stage 3 in the outpatient department of the study centre, were included. The age at first presentation, tumour site...

Xeroderma pigmentosum.

Seven cases of XP seen during a relatively short period of time, possibly indicate a high frequency of this gene in this part of the country. The gene frequency in the general population has been reported to be 1 in 200 million and the frequency of the disorder, 4 in 1 million(3). Countries like Libya, Egypt, Israel and Japan, with a high degree of consanguinity, have a high incidence of this d...