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探寻原子弹爆炸幸存者子女中改变蛋白质电荷和/或功能的突变:最终报告。

Search for mutations altering protein charge and/or function in children of atomic bomb survivors: final report.

作者信息

Neel J V, Satoh C, Goriki K, Asakawa J, Fujita M, Takahashi N, Kageoka T, Hazama R

机构信息

Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109.

出版信息

Am J Hum Genet. 1988 May;42(5):663-76.

PMID:3358419
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715165/
Abstract

A sample of (1) children whose parents had been proximally exposed (i.e., less than 2,000 m from the hypocenter) at the time of the atomic bombings of Hiroshima and Nagasaki and (2) a suitable comparison group have been examined for the occurrence of mutations altering the electrophoretic mobility or activity of a series of 30 proteins. The examination of the equivalent of 667,404 locus products in the children of proximally exposed persons yielded three mutations altering electrophoretic mobility; the corresponding figure for the comparison group was three mutations in 466,881 tests. The examination of a subset of 60,529 locus products for loss of enzyme activity in the children of proximally exposed persons yielded one mutation; no mutations were encountered in 61,741 determinations on the children of the comparison group. When these two series are compared, the mutation rate observed in the children of proximally exposed persons is thus 0.60 x 10(-5)/locus/generation, with 95% confidence intervals between 0.2 and 1.5 x 10(-5), and that in the comparison children is 0.64 x 10(-5)/locus/generation, with 95% intervals between 0.1 and 1.9 x 10(-5). The average conjoint gonad doses for the proximally exposed parents are estimated to be 0.437 Gy of gamma radiation and 0.002 Gy of neutron radiation. If a relative biological effectiveness of 20 is assigned to the neutron radiation, the combined total gonad dose for the parents becomes 0.477 Sv. (Organ absorbed doses are expressed in gray [1 Gy = 100 rad]; where dose is a mixture of gamma and neutron radiation, it is necessary because of the differing relative biological effectiveness of gamma and neutron radiation to express the combined gamma-neutron gonad exposures in sieverts [1 Sv = 100 rem]).

摘要

对一组(1)父母在广岛和长崎原子弹爆炸时处于近距离暴露(即距离爆心不到2000米)的儿童以及(2)一个合适的对照组进行了检查,以确定改变一系列30种蛋白质电泳迁移率或活性的突变的发生情况。对近距离暴露者子女中相当于667,404个基因座产物进行检测,发现3个改变电泳迁移率的突变;对照组在466,881次检测中有3个突变。对近距离暴露者子女中60,529个基因座产物的一个子集进行酶活性丧失检测,发现1个突变;对对照组子女进行的61,741次检测中未发现突变。比较这两个系列,近距离暴露者子女中观察到的突变率为0.60×10⁻⁵/基因座/代,95%置信区间在0.2至1.5×10⁻⁵之间,对照组儿童的突变率为0.64×10⁻⁵/基因座/代,95%区间在0.1至1.9×10⁻⁵之间。近距离暴露父母的平均联合性腺剂量估计为0.437戈瑞的γ辐射和0.002戈瑞的中子辐射。如果将中子辐射的相对生物效应设定为20,则父母的联合性腺总剂量变为0.477希沃特。(器官吸收剂量以格雷表示[1戈瑞 = 100拉德];由于γ和中子辐射的相对生物效应不同,在剂量为γ和中子辐射混合物的情况下,有必要以希沃特表示联合γ-中子性腺暴露[1希沃特 = 100雷姆])

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