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[人类染色体核仁组织区(NOR)的细胞遗传学:NOR四种形态功能变体的鉴定及其个体间和染色体间分布]

[Cytogenetic of nucleolar organizer regions (NOR) of human chromosomes: identification of four morphofunctional variants of NOR, their inter-individual and inter-chromosomal distribution].

作者信息

Liapunova N A, Kravets-Mandron I A, Tsvetkova T G

机构信息

Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow, Russia.

出版信息

Genetika. 1998 Sep;34(9):1298-306.

PMID:9879017
Abstract

Cytogenetic characters of the nucleolus organizer regions (NORs) located on the short arms of five acrocentric chromosomes were studied in chromosome preparations obtained from cultured blood cells of 17 donors. In situ hybridization to a 3H-labeled probe was used to estimate the relative copy number of ribosomal genes (RGs) in all NORs of chromosomes identified by G-banding in each sample. The relative amount of potentially active RGs (0 to 4 arbitrary units) in each NOR was estimated from the size of AgNOR selectively stained with silver nitrate. Linear regression analysis revealed clusters of silent RGs (CSRGs) in 24 out of 170 NORs (14%). Based on the presence or absence of active and inactive RG clusters, NORs of human chromosomes were classified into four morphological functional variants (MFVs): (1) Ag-/CSRG-, (2) Ag-/CSRG+, (3) Ag+/CSRG-, and (4) Ag+/CSRG+. These variants were observed in 7.65%, 2.35%, 11.8%, and 78.2% of 170 analyzed NORs, respectively. NORs with CSRGs (MFV 2 and 3) were absent in 5 out of 17 donors. One, two, and three NORs with CSRGs were observed in four donors each. Analysis of the chromosome distribution of NOR MFVs showed that their frequencies remained almost the same in group-D and group-G acrocentric chromosomes. Although the tested samples were small (34 chromosomes for each pair), two observations were made with regard to individual chromosomes. First, almost half MFV-1 NORs (6 out of 13) were detected on chromosome 15. Second, the frequency of CSRGs was higher in chromosome 21 (29%) than in the other chromosomes (10%).

摘要

在取自17名供体培养血细胞的染色体标本中,研究了位于5条近端着丝粒染色体短臂上的核仁组织区(NORs)的细胞遗传学特征。利用与3H标记探针的原位杂交技术,估计每个样本中经G显带鉴定的染色体所有NORs中核糖体基因(RGs)的相对拷贝数。根据用硝酸银选择性染色的AgNOR大小,估计每个NOR中潜在活性RGs的相对量(0至4个任意单位)。线性回归分析显示,在170个NORs中的24个(14%)存在沉默RGs簇(CSRGs)。根据活性和非活性RG簇的有无,将人类染色体的NORs分为四种形态功能变体(MFVs):(1)Ag-/CSRG-,(2)Ag-/CSRG+,(3)Ag+/CSRG-,和(4)Ag+/CSRG+。在170个分析的NORs中,这些变体分别占7.65%、2.35%、11.8%和78.2%。17名供体中有5名不存在带有CSRGs的NORs(MFV 2和3)。在4名供体中分别观察到1个、2个和3个带有CSRGs的NORs。对NOR MFVs的染色体分布分析表明,它们在D组和G组近端着丝粒染色体中的频率几乎相同。尽管测试样本较小(每对34条染色体),但对个别染色体有两点观察结果。第一,在15号染色体上检测到近一半的MFV-1 NORs(13个中的6个)。第二,21号染色体上CSRGs的频率(29%)高于其他染色体(10%)。

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