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对一名患有13/13易位的先证者及其亲属进行核仁组织区(NOR)活性的细胞遗传学检查。

Cytogenetic examination of the NOR activity in a proband with 13/13 translocation and in her relatives.

作者信息

Zanki H, Hahmann S

出版信息

Hum Genet. 1978 Sep 19;43(3):275-9. doi: 10.1007/BF00278834.

Abstract

NOR activity in a proband with 13/13 translocation and in her relatives was examined by NOR silver impregnation and by determination of the association frequencies. In the proband, besides the fused chromosomes 13, also a chromosome 14 and a 15 showed no NOR staining. Therefore the possibility could be ruled out that the loss of NORs was compensated by the activation of inactive NORs. However, in the proband, one chromosome 22 seemed to be more intensively stained by silver nitrate than in her parents. As in the proband, the association frequency remained constant because of an increased association tendency of chromosomes 22. The possibility is discussed that the loss of NORs was compensated by a higher NOR activity of one chromosome 22.

摘要

通过银染核仁组织区(NOR)和测定联合频率,对一名患有13/13易位的先证者及其亲属的NOR活性进行了检测。在先证者中,除了融合的13号染色体外,一条14号染色体和一条15号染色体也未显示NOR染色。因此,可以排除NOR缺失通过非活性NOR激活得到补偿的可能性。然而,在先证者中,一条22号染色体似乎比其父母的该染色体被硝酸银染色得更强烈。与先证者情况相同,由于22号染色体联合倾向增加,联合频率保持不变。文中讨论了NOR缺失可能通过一条22号染色体更高的NOR活性得到补偿的可能性。

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