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核仁组织区银染性的遗传。对7个21三体综合征家系的研究。

Inheritance of Ag-stainability of nucleolus organizer regions. Investigations in 7 families with trisomy 21.

作者信息

Mikelsaar A V, Schwarzacher H G, Schnedl W, Wagenbichler P

出版信息

Hum Genet. 1977 Sep 22;38(2):183-8. doi: 10.1007/BF00527401.

Abstract

The Ag-stainability of the nucleolus organizer region (NOR) was studied in the acrocentric chromosomes identified by Q-banding in cultured lymphocytes from seven children with trisomy 21 and their parents. The observed Ag-NOR patterns were in accordance with chromosomal inheritance except for a slight intraindividual variation which might be explained mainly by technical causes. In two cases the meiotic nondisjunction could be attributed to one of the parents, once to the father, and once to the mother. It is concluded that the Ag-stainability of the NORs is in general a heritable characteristic of the acrocentric chromosomes in maximally activated cells as, e.g., cultured lymphocytes. It may reflect individual differences in the amount of rDNA as well as differences in the capacity for NOR activation.

摘要

在7名21三体综合征患儿及其父母的培养淋巴细胞中,对经Q带鉴定的近端着丝粒染色体的核仁组织区(NOR)的银染性进行了研究。观察到的Ag-NOR模式与染色体遗传一致,只是个体内部存在轻微差异,这可能主要由技术原因造成。在两例中,减数分裂不分离可归因于父母一方,一次是父亲,一次是母亲。得出的结论是,在如培养淋巴细胞等最大程度活化的细胞中,NOR的银染性通常是近端着丝粒染色体的一种可遗传特征。它可能反映了rDNA数量的个体差异以及NOR激活能力的差异。

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