Mutations in Man pp 156-176 | Cite as
Origin and Significance of Chromosomal Alterations
Abstract
The spontaneous frequency of chromosomal changes (structural and numerical aberrations) in humans is in the order of 6 in 1,000 newborn. Chromosomal analysis of spontaneous abortuses indicate that about 50% of all spontaneous abortions are chromosomally abnormal. Populations exposed to ionizing radiations (atom bomb survivors) or chemical mutagens (e.g., workers occupationally exposed to vinyl chloride or benzene) show increased frequencies of chromosomal aberrations in their peripheral blood lymphocytes. Many types of human cancer are associated with specific or nonspecific chromosomal aberrations. Several human recessive diseases, such as ataxia telangiectasia (A-T), Fanconi’s anemia (FA) and Bloom’s syndrome (BS) are associated with increased frequencies of chromosomal aberrations. However, no detectable increase in the frequency of spontaneous point mutations in human populations exposed to ionizing radiations or chemical mutagens has been demonstrated so far. These observations point to the importance of understanding the mechanism involved in the origin of chromosomal alterations and their significance.
Keywords
Chromosomal Aberration Chinese Hamster Ovary Cell Sister Chromatid Exchange Ataxia Telangiectasia Chromosomal AlterationPreview
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