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使用荧光原位杂交技术检测人类和啮齿动物精子中的非整倍体以及精子遗传损伤检测在遗传风险评估中的应用。

Detection of aneuploidy in human and rodent sperm using FISH and applications of sperm assays of genetic damage in heritable risk evaluation.

作者信息

Wyrobek A J, Adler I D

机构信息

Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, CA 94550, USA.

出版信息

Mutat Res. 1996 Jun 10;352(1-2):173-9. doi: 10.1016/0027-5107(95)00249-9.

DOI:10.1016/0027-5107(95)00249-9
PMID:8676907
Abstract

Efficient molecular methods are being developed for detecting various types of cytogenetic genetic damage in sperm, especially numerical aneuploidy for chromosomes involved in trisomies that survive at birth. These methods provide new approaches for identifying potentially detrimental environmental exposures, genetic predisposition, chromosomal rearrangements, and physiologic factors which may increase a man's risk of fathering a genetically defective offspring. Corollary methods are also being developed for detecting sperm aneuploidy in laboratory rodents and these will be used to make inter-species comparisons of mutagen sensitivities and for investigating mechanisms of induction and persistence of aneuploidy. Validated assays for detecting genetic alterations in human and rodent sperm (of which sperm aneuploidy is a first example) permit comparisons of somatic and germinal response to mutagens within individuals, comparisons of human and rodent germinal sensitivity to mutagens, and can be applied in an extended parallelogram model to sperm for assessing heritable risk resulting from paternal mutagen exposures.

摘要

正在开发高效的分子方法来检测精子中各种类型的细胞遗传学遗传损伤,特别是与出生时存活的三体综合征相关染色体的数目非整倍性。这些方法为识别潜在有害的环境暴露、遗传易感性、染色体重排和生理因素提供了新途径,这些因素可能增加男性生育基因缺陷后代的风险。同时也在开发用于检测实验啮齿动物精子非整倍性的相应方法,这些方法将用于进行种间诱变敏感性比较以及研究非整倍性的诱导和持续机制。用于检测人类和啮齿动物精子遗传改变的经过验证的检测方法(其中精子非整倍性是第一个例子)允许在个体内比较体细胞和生殖细胞对诱变剂的反应,比较人类和啮齿动物生殖细胞对诱变剂的敏感性,并且可以应用于扩展的平行四边形模型来评估父系诱变剂暴露导致的遗传风险。

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