Carrier detection in xeroderma pigmentosum

Journal Article · Mon Jan 01 00:00:00 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), Vol. 85:1; ISSN 0021-9738
• Country of Publication: United States
• Language: English

Related Subjects

63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.
CHROMOSOMAL ABERRATIONS
RADIOINDUCTION
XERODERMA PIGMENTOSUM
GENES
CELL CULTURES
CELL CYCLE
FIBROBLASTS
LYMPHOCYTES
MAN
MUTATION FREQUENCY
SKIN
X RADIATION
XP CELLS
ANIMAL CELLS
ANIMALS
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY
BODY FLUIDS
CONNECTIVE TISSUE CELLS
DISEASES
ELECTROMAGNETIC RADIATION
IONIZING RADIATIONS
LEUKOCYTES
MAMMALS
MATERIALS
MUTATIONS
ORGANS
PRIMATES
RADIATIONS
SKIN DISEASES
SOMATIC CELLS
VERTEBRATES
560120* - Radiation Effects on Biochemicals
Cells
& Tissue Culture