The Children of Atomic Bomb Survivors A Genetic Study (1991) / Chapter Skim
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The Future of These Studies
The Future of These Studies
Pages 487-494
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From page 487... ...
In this connection, we emphasize again that the estimate that we have generated of the contribution of spontaneous mutation in the parental generation to congenital defects and prereproductive death, namely, between 0.33% and 0.53%, is more-or-less specific to a Japanese population in which during the time span of the investigation some 10% of all pregnancies completing the fifth lunar month of gestation terminated in one of the end points concerned. For instance, unlike the current situation, in post-war Japan Down's 487 THE CHILDREN OF ATOMIC BOMB SURVIVORS 487
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From page 488... ...
Continuing advances, in Japan and elsewhere, in understanding the genetic basis of congenital defect should result in a substantial refinement of any estimate of this type. In particular, progress may be expected in defining additional chromosomal microdeletion syndromes, comparable to such already recognized entities as the Langer-Gideon, Prader-Willi-Angelman, Miller-Dieker, thalassemia/mental retardation, choroideremia/deafness/mental retardation, and DiGeorge Syndromes.
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From page 489... ...
The need for many different probes imposed by the study sample sizes discussed earlier will to some extent protect against over-reliance on a few, perhaps atypical probes, but even so, as knowledge of the occurrence of variation at the genome level unfolds, it will be important to develop the battery of probes to be used in any study with an appreciation of probe variability in mutation rate. With these numerical demands and the limitations on the personnel to be committed to the project, it seems likely that the generation of a substantial data set at RERF will require an effort extending over at least a decade.
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From page 490... ...
In this connection, an interesting possibility created by the polymerase chain reaction technique is a return to preserved samples from the 717 infants autopsied in Hiroshima during the period 19481953, to search for transmitted major DNA damage. It seems important to emphasize that although investigations at the DNA level bring greater precision into the studies of genetic effects than previously, there may be real difficulties in translating the results of such studies into a phenotypic equivalent.
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From page 491... ...
(1990) that the parents of children developing leukemia prior to age 25 in the West Cumbria district of the United Kingdom are characterized by occupational exposures to radiation in the Sellafield nuclear plant located in this district which are not observed in the parents of matched controls.
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From page 492... ...
(1988) on congenital defects in two counties in the southeastern portion of the State of Washington, where the Hanford nuclear facility has been a major employer.
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From page 493... ...
The variants detected by electrophoresis and enzyme activity studies, which would not be detected by the kinds of gross phenotypic classification that originally led to the terms "dominant" and "recessive," fit the classical definitions of recessively inherited traits. The DNA studies would now be the definitive approach to the question of induced "recessive" damage.
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From page 494... ...
1990. It lumors during 1be hrsl 2 decades of lid in 1be of spring of aroma bomb survivors 4~.
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