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Table 16-3

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   Human Diseases with DNA-Repair Defects

DiseaseSensitivityCancer susceptibilityComplementation groupsSymptoms
Ataxia telangiectasia γ irradiationLymphomas5Ataxia, dilation of blood vessels (telangiectases) in skin and eyes, chromosome aberrations, immune dysfunction
Bloom syndromeMild alkylating agentsCarcinomas, leukemias, lymphomas1Photosensitivity, facial telangiectases, chromosome alterations
Cockayne syndromeUV light2Dwarfism, retinal atrophy, photosensitivity, progeria, deafness, trisomy 10
Fanconi anemiaCross-linking agentsLeukemias3Hypoplastic pancytopenia, congenital anomalies
Xeroderma pigmentosumUV light, chemical mutagensSkin carcinomas and melanomas8Skin and eye photosensitivity, keratoses
HNPCCColon, ovary4Early development of tumors

Note: Other human hereditary disorders that may be related to DNA-repair defects include dyskeratosis congenita (Zinsser-Cole-Engman syndrome), progeria (Hutchinson-Gilford syndrome), and trichothiodystrophy. HNPCC, hereditary nonpolyposis colorectal cancer.

Source: After A. Kornberg and T. Baker, DNA Replication, 2d ed. Copyright © 1992 by W. H. Freeman and Company.