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高天然辐射地区的人类遗传学研究。VIII. 与辐射无关的遗传负荷

Human genetic studies in areas of high natural radiation. VIII. Genetic load not related to radiation.

作者信息

Freire-Maia A, Krieger H

机构信息

Departamento de Genética, Faculdade de Ciências Médicas e Biológicas, Botucatú, São Paulo, Brazil.

出版信息

Am J Hum Genet. 1975 May;27(3):385-93.

Abstract

The genetic load disclosed by inbreeding has been analyzed in a multiple regression model for a population involving several localities in the state of Espírito Santo, Brazil. The inbreeding load has been estimated for number of pregnancies, abortions, stillbirths, children born alive, anomalies in general, sex ratio, infant mortality, post-infant mortality, and sterility and infertility of the couple. There was no evidence of either maternal or paternal inbreeding effects on the variables analyzed. The effect of inbreeding of the zygote was significant only for anomalies in general (B = 2.29 +/- 0.45) and infant mortality (B = 3.19 +/- 1.39). The latter result must be accepted with caution because of the many environmental causes affecting infant mortality. The B/A ratio suggested a predominantly mutational load for anomalies in general (B/A = 25), but with respect to infant mortality (B/A = 6), the ratio is regarded as an underestimate because of the environmental contribution to A and therefore not supportive of the segregational interpretation.

摘要

在一个涉及巴西圣埃斯皮里图州多个地区的人群多元回归模型中,对近亲繁殖所揭示的遗传负荷进行了分析。已针对怀孕次数、流产、死产、活产婴儿数量、一般异常情况、性别比、婴儿死亡率、婴儿期后死亡率以及夫妻的不育和不孕情况估算了近亲繁殖负荷。在所分析的变量上,没有证据表明存在母系或父系近亲繁殖效应。合子近亲繁殖的效应仅在一般异常情况(B = 2.29 ± 0.45)和婴儿死亡率(B = 3.19 ± 1.39)方面具有显著性。由于影响婴儿死亡率的环境因素众多,后一个结果必须谨慎接受。B/A比率表明,一般异常情况主要是突变负荷(B/A = 25),但就婴儿死亡率而言(B/A = 6),由于环境对A的贡献,该比率被视为低估,因此不支持分离解释。

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