Xeroderma pigmentosum

A rapid sensitive method for prenatal diagnosis

James D. Regan, R. B. Setlow, Michael M. Kaback, R. Howell, Edmund Klein, Gordon Burgess

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

When normal human cells, capable of repairing ultraviolet-induced lesions in their DNA, are incubated in the thymidine analog 5-bromodeoxyundine after ultraviolet irradiation, the analog is incorporated into the repaired regions. When such repaired cells are subsequently irradiated with 313-nanometer radiation and placed in alkali, breaks appear in the DNA at sites of incorporation of 5bromodeoxyuridine, inducing a dramatic downward shift in the sedimentation constant of the DNA. Cells from patients with the disease xeroderma pigmentosum, which causes sensitivity to ultraviolet, are incapable or only minimally capable of repair; such cells incorporate little 5-bromodeoxyuridine into their DNA under these conditions and, upon 313-nanometer irradiation and sedimentation in alkali, exhibit only minor shifts in DNA sedimentation constants. When fibroblasts developed from biopsies of normal skin and of skin from patients with xeroderma pigmentosum, as well as cells cultured from midtrimester amniotic fluid, were assayed in this fashion unequivocal differences between normal and xeroderma pigmentosum cells were shown. Xeroderma pigmentosum heterozygotes are clearly distinguishable from homozygous mutants, and results are available 12 hours after irradiation.

Original languageEnglish
Pages (from-to)147-150
Number of pages4
JournalScience
Volume174
Issue number4005
StatePublished - Dec 1 1971
Externally publishedYes

Fingerprint

Xeroderma Pigmentosum
Prenatal Diagnosis
DNA
Alkalies
Skin
Second Pregnancy Trimester
Bromodeoxyuridine
Amniotic Fluid
Heterozygote
Thymidine
Cultured Cells
Fibroblasts
Radiation
Biopsy

ASJC Scopus subject areas

  • General

Cite this

Regan, J. D., Setlow, R. B., Kaback, M. M., Howell, R., Klein, E., & Burgess, G. (1971). Xeroderma pigmentosum: A rapid sensitive method for prenatal diagnosis. Science, 174(4005), 147-150.

Xeroderma pigmentosum : A rapid sensitive method for prenatal diagnosis. / Regan, James D.; Setlow, R. B.; Kaback, Michael M.; Howell, R.; Klein, Edmund; Burgess, Gordon.

In: Science, Vol. 174, No. 4005, 01.12.1971, p. 147-150.

Research output: Contribution to journalArticle

Regan, JD, Setlow, RB, Kaback, MM, Howell, R, Klein, E & Burgess, G 1971, 'Xeroderma pigmentosum: A rapid sensitive method for prenatal diagnosis', Science, vol. 174, no. 4005, pp. 147-150.
Regan JD, Setlow RB, Kaback MM, Howell R, Klein E, Burgess G. Xeroderma pigmentosum: A rapid sensitive method for prenatal diagnosis. Science. 1971 Dec 1;174(4005):147-150.
Regan, James D. ; Setlow, R. B. ; Kaback, Michael M. ; Howell, R. ; Klein, Edmund ; Burgess, Gordon. / Xeroderma pigmentosum : A rapid sensitive method for prenatal diagnosis. In: Science. 1971 ; Vol. 174, No. 4005. pp. 147-150.
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