Carrier detection in xeroderma pigmentosum

Journal Article · Mon Jan 01 04:00:00 EST 1990 · Journal of Clinical Investigation; (USA)

DOI:https://doi.org/10.1172/JCI114403· OSTI ID:7105059

Parshad, R; Sanford, K K; Kraemer, K H; Jones, G M; Tarone, R E ^[1]

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1. Howard University College of Medicine, Washington, DC (USA)

We were able to detect clinically normal carriers of xeroderma pigmentosum (XP) genes with coded samples of either peripheral blood lymphocytes or skin fibroblasts, using a cytogenetic assay shown previously to detect individuals with cancer-prone genetic disorders. Metaphase cells of phytohemagglutinin-stimulated T-lymphocytes from eight individuals who are obligate heterozygotes for XP were compared with those from nine normal controls at 1.3, 2.3, and 3.3 h after x-irradiation (58 R) during the G2 phase of the cell cycle. Lymphocytes from the XP heterozygotes had twofold higher frequencies of chromatid breaks or chromatid gaps than normal (P less than 10(-5)) when fixed at 2.3 or 3.3 h after irradiation. Lymphocytes from six XP homozygotes had frequencies of breaks and gaps threefold higher than normal. Skin fibroblasts from an additional obligate XP heterozygote, when fixed approximately 2 h after x-irradiation (68 R), had a twofold higher frequency of chromatid breaks and a fourfold higher frequency of gaps than fibroblasts from a normal control. This frequency of aberrations in cells from the XP heterozygote was approximately half that observed in the XP homozygote. The elevated frequencies of chromatid breaks and gaps after G2 phase x-irradiation may provide the basis of a test for identifying carriers of the XP gene(s) within known XP families.

• OSTI ID: 7105059
• Journal Information: Journal of Clinical Investigation; (USA), Journal Name: Journal of Clinical Investigation; (USA) Vol. 85:1; ISSN 0021-9738; ISSN JCINA
• Country of Publication: United States
• Language: English

Related Subjects

560120* -- Radiation Effects on Biochemicals
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63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.
ANIMAL CELLS
ANIMALS
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY
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MUTATION FREQUENCY
MUTATIONS
ORGANS
PRIMATES
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RADIOINDUCTION
SKIN
SKIN DISEASES
SOMATIC CELLS
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X RADIATION
XERODERMA PIGMENTOSUM
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