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Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with
Human Genetics
|October 1, 1986
Summary
Trichothiodystrophy (TTD) cells exhibit DNA repair defects, showing reduced DNA synthesis and survival after UV exposure. Complementation studies suggest a defect in a DNA repair pathway distinct from xeroderma pigmentosum groups A and D.
Area of Science:
- Genetics
- Molecular Biology
- Cell Biology
Background:
- Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair, developmental delays, ichthyosis, and photosensitivity.
- Patients with TTD exhibit cellular hypersensitivity to ultraviolet (UV) irradiation, indicating potential DNA repair deficiencies.