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孪生儿中的喹吖因氮芥与核仁组成区异型性

Quinacrine mustard and nucleolar organizer region heteromorphisms in twins.

作者信息

Morton C C, Corey L A, Nance W E, Brown J A

出版信息

Acta Genet Med Gemellol (Roma). 1981;30(1):39-49. doi: 10.1017/s0001566000006607.

Abstract

Patterns of NOR activity in 640 metaphase spreads from twelve monozygotic (MZ) and eight dizygotic (DZ) twin pairs were studied to evaluate the heritability of this chromosomal heteromorphism. NORs were stained by a modification of the Ag-AS technique and counterstained with quinacrine mustard dihydrochloride to facilitate chromosome identification and assess their value in zygosity determination. In this study, all karyotypes were read blind with respect to zygosity and pair membership. A discriminant function analysis of pair score differences in MZ and DZ twins revealed that, in our sample, the probability of accurately determining zygosity with NOR scores was 0.93 and with QFQ scores was 0.99. We conclude that NOR and QFQ scores are highly heritable and of great value in zygosity determination. Data were collected from 687 metaphase spreads on the frequency with which an acrocentric chromosome was found in a satellite association. A significant correlation was found between this frequency and the degree of Ag-AS stain of the NOR. This study, therefore, confirms previous results showing that a high degree of NOR activity is found in those chromosomes most often involved in satellite associations.

摘要

研究了来自12对单卵(MZ)双胞胎和8对双卵(DZ)双胞胎的640个中期细胞分裂相中的核仁组织区(NOR)活性模式,以评估这种染色体多态性的遗传力。采用改良的银染-酸性磷酸酶(Ag-AS)技术对NOR进行染色,并用二盐酸喹吖因芥子气复染,以方便染色体识别并评估其在合子性判定中的价值。在本研究中,所有核型分析均在不知道合子性和双胞胎配对情况的条件下进行。对MZ和DZ双胞胎的配对分数差异进行判别函数分析显示,在我们的样本中,用NOR分数准确判定合子性的概率为0.93,用喹吖因荧光定量(QFQ)分数判定的概率为0.99。我们得出结论,NOR和QFQ分数具有高度遗传性,在合子性判定中具有重要价值。从687个中期细胞分裂相中收集了关于近端着丝粒染色体在随体联合中出现频率的数据。发现该频率与NOR的Ag-AS染色程度之间存在显著相关性。因此,本研究证实了先前的结果,即那些最常参与随体联合的染色体中发现了高度的NOR活性。

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