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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.

PMID:803018
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1762866/
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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引用本文的文献

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2
Inbreeding effects on fertility and sterility in southern India.近亲繁殖对印度南部生育力和不育症的影响。
J Med Genet. 1979 Feb;16(1):24-31. doi: 10.1136/jmg.16.1.24.

本文引用的文献

1
AN ESTIMATE OF THE MUTATIONAL DAMAGE IN MAN FROM DATA ON CONSANGUINEOUS MARRIAGES.根据近亲婚姻数据对人类突变损伤的估计
Proc Natl Acad Sci U S A. 1956 Nov;42(11):855-63. doi: 10.1073/pnas.42.11.855.
2
Sex ratios in partial sex-linkage. I. Excess of affected females from consanguineous matings.部分性连锁中的性别比例。I. 近亲交配中受影响女性的过剩。
Am J Hum Genet. 1952 Mar;4(1):14-30.
3
The mutational load due to detrimental genes in man.人类中有害基因导致的突变负荷。
Am J Hum Genet. 1960 Sep;12(3):348-64.
4
INBREEDING EFFECT ON MORTALITY AND MORBIDITY IN SOUTH BRAZILIAN POPULATIONS.近亲繁殖对巴西南部人群死亡率和发病率的影响。
Ann Hum Genet. 1964 Mar;27:203-18. doi: 10.1111/j.1469-1809.1963.tb00787.x.
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2. The concept of genetic load: a reply.2. 遗传负荷的概念:回应
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1. The concept of genetic load: a critique.1. 遗传负荷的概念:一种批判。
Am J Hum Genet. 1963 Sep;15(3):298-309.
7
Decrease of population fitness upon inbreeding.近亲繁殖导致群体适应性下降。
Proc Natl Acad Sci U S A. 1963 Apr;49(4):439-45. doi: 10.1073/pnas.49.4.439.
8
Micro-evolution among the Susak islanders. Inbreeding, sterility, blood groups and red hair.苏萨克岛民中的微进化。近亲繁殖、不育、血型与红发。
Ann Hum Genet. 1960 Apr;24:15-22. doi: 10.1111/j.1469-1809.1959.tb01711.x.
9
The structure of consanguineous marriages and its genetic implications.
Ann Hum Genet. 1961 May;25:29-39. doi: 10.1111/j.1469-1809.1961.tb01494.x.
10
Consanguineous marriages in the Chicago region.芝加哥地区的近亲婚姻。
Am J Hum Genet. 1958 Dec;10(4):446-64.