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小鼠常染色体不分离和染色体丢失的基因检测。

Genetic tests for autosomal non-disjunction and chromosome loss in mice.

作者信息

Cattanach B M, Papworth D, Kirk M

出版信息

Mutat Res. 1984 Apr;126(2):189-204. doi: 10.1016/0027-5107(84)90061-7.

Abstract

Two new genetic methods for detecting autosomal non-disjunction and chromosome loss in mice are described. Both methods involve the use of marker genes and Robertsonian translocations, the latter present only in tester parents, to detect events in chromosomally normal mice. With the Rb method, the tester parent carries one or more Robertsonian translocations heterozygously; with the MBH method the tester parent carries two Robertsonian translocations showing monobrachial homology. The high rates of meiotic non-disjunction in the tester mice provide gametes with specific extra or missing chromosomes which, at fertilization, can allow the survival of a proportion of the zygotes lacking or carrying an extra specific chromosome from tested chromosomally normal parents. The Rb method has been assessed for X-ray-induced chromosome 1 loss and non-disjunction in mature oocytes and also for such chromosome 1 loss from the maternal pronuclei of 1-cell zygotes. The MBH method has been assessed for X-ray-induced chromosome 1 loss in male postmeiotic cells and for non-disjunction in spermatocytes. Both methods proved effective in detecting chromosome 1 loss. A single case of the much rarer non-disjunctional event was also found. As applied, both methods compared favourably with the numerical sex chromosome anomaly (NSA) method and have considerable potential for further development.

摘要

本文描述了两种用于检测小鼠常染色体不分离和染色体丢失的新遗传方法。这两种方法都涉及使用标记基因和罗伯逊易位(后者仅存在于测试亲本中)来检测染色体正常小鼠中的相关事件。使用Rb方法时,测试亲本携带一个或多个罗伯逊易位杂合子;使用MBH方法时,测试亲本携带两个显示单臂同源性的罗伯逊易位。测试小鼠中减数分裂不分离的高发生率为配子提供了特定的额外或缺失染色体,在受精时,这些染色体可以使一部分来自经测试染色体正常亲本的、缺乏或携带额外特定染色体的合子存活下来。Rb方法已被用于评估成熟卵母细胞中X射线诱导的1号染色体丢失和不分离情况,以及1细胞合子母原核中的1号染色体丢失情况。MBH方法已被用于评估雄性减数分裂后细胞中X射线诱导的1号染色体丢失以及精母细胞中的不分离情况。两种方法在检测1号染色体丢失方面均被证明是有效的。还发现了一个更为罕见的不分离事件的案例。在实际应用中,这两种方法与数字性染色体异常(NSA)方法相比具有优势,并且具有很大的进一步发展潜力。

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