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概要

Aminoglycosides and Nonaminoglycosides Influence Read-through of Premature Stop Codons in XPC Fibroblasts

Eric Bowman Jr, Laila Al-Eryani, Sikandar G. Khan, Kenneth Kraemer

A Xeroderma Pigmentosum (XP) is a genetically inherited recessive disorder. XP increases risk of skin cancer:

- nonmelanoma---10,000-fold,

- melanomas --- 2,000-fold

- tongue cancers --- 100,000-fold

• Estimated XP incidences in the USA are 1 in 1,000,0001 , 1 in 20,000 in Japan 5 , and approximately 2.3/ million live births in Western Europe 5

• XP has seven different complementation groups (A-G) translated for nucleotide excision DNA repair when exposed and damaged to UV light 1

• Mutation(s) in the XP genes result in a much slower rate of DNA repair

• Some XP patients become severely sunburned after minimal sun exposure with phenotypic expressions of lentigines and progressive neurological degeneration (XPA, XPD, XPG)

• XPC increases the likelihood of developing, earlyonset freckles and skin cancer 1