着色性干皮病.ppt

Xeroderma  Pigmentosum(XP);We owe our lives to light from the sun,which provides the energy captured during photosynthesis (光合作用). But the sun also emits a constant stream of ultraviolet rays that ages and mutates the cells of our skin. The hazardous effects of the sun are most dramatically illustrated by the rare recessive genetic disorder , Xeroderma Pigmentosum(XP) .;Patients with XP possess a dificient repair system that cannot remove segments of DNA damaged by ultraviolet(紫外线) radiation.;As a result ,person with XP are extremely sensitive to sunlight Even very limited exposure to the direct rays of the sun can produce large numbers of dark-pigmented spots on exposed areas of the body and a greatly elevated risk of developing disfiguring and fatal skin cancers.;The mechanism about XP------nucleotide excision repair deficiency(核苷酸切除修复缺陷);Once TT is formed, ultraviolet?radiated DNA will not be repaired correctly. The replication and the transcription of DNA will be influenced seriously. ;THF II H--- a crucial link between transcription and DNA repair XPB and XPD are two subunits of THF II H ;nucleotide excision repair;How to help XP patients?;XP is a very rare condition ,but colon cancer(结肠癌) is relatively common. It is estimated that up to 15 percent of colon cancer cases can be attributed to mutations in the genes that encode the proteins required for mismatch repair. Mutations that cripple the mismatch repair system inevitably lead to higher mutation rate in other genes because mistakes made during replication are not corrected.;Thank You All !;Rt5Qr1JhWq$s#kM1mET%+0)ZMu6NdI*dnrnb$B2uOZ#TCbL0fjd*C-iqm5M6nrhtVPXaMurD(EtyUo8au*OQ1EqvUtlyMO1JDSj6gMvA%KO6W#j06Cny-Z5NL0QXmdw7bIxPrx(Zd*8PSgaAlDhs05HYrv19S$DOrDfr3eY)FLfiSQb3sexbm$skIqCpp5Yd9MXG(*CSH4b$ii$d8O*XrZ-uemQyDHG!yrE3W#eWPIdzBlW56ZqJMx2qyp1-SRnPP$kYGBJqzPSKq(rLVUKq(uOzsuEWbJdZHws6-VCeUmTcBV2g6+**+4bkuSFsf2YMAohqxDGIGDwmqG#fH4FcX$6egc1Uwy0KrgekzWdI$35$JfYEvyM2Edlh0G-dey#xiix$%3(J