• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

人类遗传性标记染色体22短臂增大：核糖体DNA基因多样性、银染带大小及近端着丝粒关联的研究

Human inherited marker chromosome 22 short-arm enlargement: investigation of rDNA gene multiplicity, Ag-band size, and acrocentric association.

作者信息

Bernstein R, Dawson B, Griffiths J

出版信息

Hum Genet. 1981;58(2):135-9. doi: 10.1007/BF00278697.

DOI:10.1007/BF00278697
PMID:6945287
Abstract

The banding characteristics of an extreme variant familial chromosome 22 short-arm enlargement are described. Ag-AS staining for nucleolar-organizer regions, identified two areas of rDNA actively coding for 18S and 28S rRNA, the one being a broad distal Ag-band and the other a narrower centromeric Ag-band. The DNA in the major portion of the enlarged short arm was highly methylated, as shown by the binding of antibodies to 5-methylcytidine after UV-denaturation of chromosomal DNA. Mean Ag-band size on the aberrant 22p+ correlated with the mean number of 22p+ associations. Association of 22p+ was no greater than that of other acrocentrics, in spite of a presumed excess number of rDNA gene copies. This case represents only the second such normal variant defined by these techniques.

摘要

描述了一种极端变异型家族性22号染色体短臂增大的带型特征。对核仁组织区进行银染-抗银染（Ag-AS）染色，确定了两个活跃编码18S和28S rRNA的rDNA区域，一个是宽阔的远端银染带，另一个是较窄的着丝粒银染带。如染色体DNA经紫外线变性后5-甲基胞嘧啶抗体的结合所示，增大的短臂大部分区域的DNA高度甲基化。异常的22p+上银染带的平均大小与22p+联合的平均数相关。尽管推测rDNA基因拷贝数过多，但22p+的联合并不比其他近端着丝粒染色体的联合更大。该病例是通过这些技术定义的第二个此类正常变异。

相似文献

1
Human inherited marker chromosome 22 short-arm enlargement: investigation of rDNA gene multiplicity, Ag-band size, and acrocentric association.人类遗传性标记染色体22短臂增大：核糖体DNA基因多样性、银染带大小及近端着丝粒关联的研究
Hum Genet. 1981;58(2):135-9. doi: 10.1007/BF00278697.
2
[Molecular and clinical cytogenetic studies of a family with a 22p+ marker chromosome].[一个带有22号染色体短臂+标记染色体的家族的分子与临床细胞遗传学研究]
Yi Chuan Xue Bao. 1993;20(1):7-11.
3
Rearrangements of chromosomal regions containing ribosomal RNA genes and centromeric heterochromatin in the human melanoma cell line MeWo.人黑色素瘤细胞系MeWo中包含核糖体RNA基因和着丝粒异染色质的染色体区域重排。
Cancer Genet Cytogenet. 1986 Apr 1;21(3):221-37. doi: 10.1016/0165-4608(86)90003-8.
4
Compensatory changes in silver-stainability of nucleolar organizer regions in mice.
Jpn J Genet. 1992 Jun;67(3):217-32. doi: 10.1266/jjg.67.217.
5
Chromosome heteromorphisms in the Japanese. II. Nucleolus organizer regions of variant chromosomes in D and G groups.日本人的染色体异态性。II. D组和G组变异染色体的核仁组织区
Hum Genet. 1980;55(2):265-70. doi: 10.1007/BF00291776.
6
Intercalar satellites of human acrocentric chromosomes as a cytological manifestation of polymorphism in GC-rich material?人类近端着丝粒染色体的间插卫星是否为富含GC物质多态性的一种细胞学表现？
Hum Genet. 1980;54(3):343-7. doi: 10.1007/BF00291580.
7
Family with 22-derived marker chromosome and late-onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high-level repeat sequences using fluorescence in situ hybridization.携带22号衍生标记染色体及晚发性阿尔茨海默病型痴呆的家系：II. 标记染色体的进一步细胞遗传学分析及利用荧光原位杂交对高度重复序列的特征分析
Am J Med Genet. 1993 Aug 1;47(1):14-9. doi: 10.1002/ajmg.1320470104.
8
Analysis of a familial 15p + polymorphism: exclusion of Y/15 translocation.
Clin Genet. 1984 Sep;26(3):204-8. doi: 10.1111/j.1399-0004.1984.tb04368.x.
9
[Genetic determination of the activity of nucleolar-organizing regions of human chromosomes].[人类染色体核仁组织区活性的遗传决定]
Biull Eksp Biol Med. 1981 Mar;91(3):350-3.
10
Amplification of (GACA)n simple repeats in an exceptional 14p+ marker chromosome.一条异常的14p+标记染色体中(GACA)n简单重复序列的扩增。
Hum Genet. 1994 Apr;93(4):375-82. doi: 10.1007/BF00201661.

引用本文的文献

1
De novo formed satellite DNA-based mammalian artificial chromosomes and their possible applications.基于新生卫星DNA的哺乳动物人工染色体及其可能的应用。
Chromosome Res. 2015 Feb;23(1):143-57. doi: 10.1007/s10577-014-9458-0.
2
Amplification of (GACA)n simple repeats in an exceptional 14p+ marker chromosome.一条异常的14p+标记染色体中(GACA)n简单重复序列的扩增。
Hum Genet. 1994 Apr;93(4):375-82. doi: 10.1007/BF00201661.
3
Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortions.三体性自然流产父母的核仁组织区分析

本文引用的文献

1
Nucleolus-organisers in the causation of chromosomal anomalies in man.人类染色体异常病因中的核仁组织者
Lancet. 1961 Jul 15;2(7194):123-6. doi: 10.1016/s0140-6736(61)92647-2.
2
Observations on the satellited human chromosomes.关于人类随体染色体的观察
Lancet. 1961 Mar 25;1(7178):638-40. doi: 10.1016/s0140-6736(61)91655-5.
3
Location of ribosomal DNA in the human chromosome complement.核糖体DNA在人类染色体组中的定位。
Hum Genet. 1987 Aug;76(4):381-4. doi: 10.1007/BF00272449.
4
New insights into the effects of extra nucleolus organizer regions.
Hum Genet. 1986 Jan;72(1):80-2. doi: 10.1007/BF00278823.
5
Relationship between the number and function of human ribosomal genes.人类核糖体基因的数量与功能之间的关系。
Hum Genet. 1988 Aug;79(4):301-4. doi: 10.1007/BF00282165.
6
Nucleolar organizer region variants as a risk factor for Down syndrome.核仁组织区变异作为唐氏综合征的一个风险因素。
Am J Hum Genet. 1985 Nov;37(6):1049-61.
7
The role of cytologic NOR variants in the etiology of trisomy 21.细胞NOR变异体在21三体综合征病因学中的作用。
Am J Hum Genet. 1989 May;44(5):631-8.
8
Inheritance of ribosomal gene activity and level of DNA methylation of individual gene clusters in a three generation family.
Hum Genet. 1991 Dec;88(2):146-52. doi: 10.1007/BF00206062.
9
Methylation status of ribosomal RNA gene clusters in the flow-sorted human acrocentric chromosomes.
Mamm Genome. 1992;3(3):173-8. doi: 10.1007/BF00352463.
Proc Natl Acad Sci U S A. 1972 Nov;69(11):3394-8. doi: 10.1073/pnas.69.11.3394.
4
Chromosome studies on randomly chosen men and women.对随机选取的男性和女性进行染色体研究。
Lancet. 1965 Sep 18;2(7412):561-2. doi: 10.1016/s0140-6736(65)90867-6.
5
Human chromosome structure as revealed by an immunoperoxidase staining procedure.
Exp Cell Res. 1974 Dec;89(2):426-9. doi: 10.1016/0014-4827(74)90815-5.
6
On the relationship between the frequency of association and the nucleolar constriction of individual acrocentric chromosomes.关于个体近端着丝粒染色体的联合频率与核仁缢痕之间的关系。
Humangenetik. 1974;23(4):267-77. doi: 10.1007/BF00272510.
7
Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining.信件：通过喹吖因荧光和吉姆萨染色鉴定出慢性粒细胞白血病中一种新的一致染色体异常。
Nature. 1973 Jun 1;243(5405):290-3. doi: 10.1038/243290a0.
8
[Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].[用5-溴脱氧尿苷处理后人类染色体的吖啶橙染色]
C R Acad Hebd Seances Acad Sci D. 1973 Jun 13;276(24):3179-81.
9
A simple technique for demonstrating centromeric heterochromatin.一种用于显示着丝粒异染色质的简单技术。
Exp Cell Res. 1972 Nov;75(1):304-6. doi: 10.1016/0014-4827(72)90558-7.
10
High resolution of human chromosomes.人类染色体的高分辨率。
Science. 1976 Mar 26;191(4233):1268-70. doi: 10.1126/science.1257746.