作者: K. Sankaranarayanan
DOI: 10.1016/S0027-5107(99)00100-1
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摘要: Estimates of genetic risks radiation exposure humans are traditionally expressed as expected increases in the frequencies diseases (single-gene, chromosomal and multifactorial) over above those naturally-occurring ones population. An important assumption expressing this manner is that gonadal exposures can cause an increase frequency mutations would result under study. However, despite compelling evidence for radiation-induced experimental systems, no concern or other adverse effects (i.e., which not formally classified diseases), have been found human studies involving parents who sustained exposures. The known differences between spontaneous underlie single-gene studied systems now permit us to address resolve these issues some extent. fact (among point DNA deletions generally restricted gene) originate through a number different mechanisms latter intimately related organization genes, well-documented. Further, include loss function well gain genes. In contrast, most (although identified phenotypes marker genes) predominantly multigene function; recoverability induced deletion livebirth seems dependent on whether gene genomic region it located tolerate heterozygosity yet be compatible with viability. retrospect, successful mutation test (such mouse specific locus test) used involved genes non-essential survival also regions, likewise survival. at looked for, do seem attributes. inference therefore failure find germline due resistance but structural functional constraints associated their livebirths. Since risk inducible estimated using rates "recovered" mice, there need introduce appropriate correction factors bridge gap causing potentially recoverable humans. whole genome "target" damage, societal does imply exposures: problem lies delineating damage recognizable Data from microdeletion syndromes instructive regard. They (i) support view growth retardation, mental retardation multisystem developmental abnormalities likely among quantitatively more than few selected (ii) underscore expand focus estimation (as has case thus far) although "genetic diseases". (ABSTRACT TRUNCATED)