[DNA repair capacity measurement and possibility of heterozygote detection using nucleoid sedimentation technique among members taken from 3 xeroderma pigmentosum (XP) families]

Yi Chuan Xue Bao. 1992;19(1):9-16.
[Article in Chinese]

Abstract

The nucleoid sedimentation test was used to analyse the DNA repair capacity in 35 members taken from 3 xeroderma pigmentosum (XP) families after their peripheral blood lymphocytes being exposed to UV irradiation or N-methyl-N-nitro-N-nitrosoguanidine (MNNG) at a dose of 2.5 microJ/mm2 and 2 micrograms/ml respectively. The results showed that the 6 XP patients all failed to repair their damaged DNA even after 20-hour incubation at 37 degrees C. The repair ratios were 0.61 +/- 0.13 for UV and 0.44 +/- 0.15 for MNNG while those of non-related normal members usually reached 0.96 +/- 0.07 and 0.71 +/- 0.07 for both UV and MNNG after 11-hour incubation. It is interesting to note that 9 obligatory heterozygotes (parents and grandparents of XP patients) and 4 highly possible heterozygotes (blood relatives of XP patients) also showed very poor DNA repair capacity: they could not accomplish their repair process even after 20-hour incubation. It has been showed that the nucleoid sedimentation test can probably be used to pick out the heterozygotes in XP families.

MeSH terms

  • Adolescent
  • Cell Nucleus
  • Child
  • DNA Repair*
  • Family Health
  • Female
  • Genetic Carrier Screening* / methods
  • Humans
  • Male
  • Xeroderma Pigmentosum / genetics*
  • Xeroderma Pigmentosum / pathology