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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.

DOI:10.1007/BF00278834
PMID:81168
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。

相似文献

1
Cytogenetic examination of the NOR activity in a proband with 13/13 translocation and in her relatives.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。
Hum Genet. 1978 Sep 19;43(3):275-9. doi: 10.1007/BF00278834.
2
Rapid identification of chromosomes carrying silver-stained nucleolus-organizing regions: application to case of 21/21 Robertsonian translocation.携带银染核仁组织区染色体的快速鉴定:应用于21/21罗伯逊易位病例
Hum Genet. 1978 Oct 31;44(2):173-80. doi: 10.1007/BF00295410.
3
Are NORs easily translocated to deleted chromosomes?核仁组织区容易易位到缺失的染色体上吗?
Hum Genet. 1978 Jun 9;42(2):137-42. doi: 10.1007/BF00283633.
4
Cytological and histochemical studies on the mechanism of the selective silver staining of nucleolus organizer regions (NORs).核仁组织区(NORs)选择性银染机制的细胞学和组织化学研究。
Histochemistry. 1979 Feb 26;60(1):91-9. doi: 10.1007/BF00495732.
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Populational polymorphisms in silver staining of nucleolus organizer regions (NORs) in human acrocentric chromosomes.人类近端着丝粒染色体核仁组织区(NORs)银染的群体多态性。
Hum Genet. 1979 Oct 2;51(3):281-5. doi: 10.1007/BF00283395.
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引用本文的文献

1
NORs and satellite associations in a family with 13/14 translocation.一个患有13/14易位的家族中的核仁组织区和随体联合
Hum Genet. 1981;59(4):342-4. doi: 10.1007/BF00295468.
2
Genetic determination of NOR activity in human lymphocytes from twins.双胞胎人类淋巴细胞中核仁组织区活性的遗传决定因素
Hum Genet. 1982;60(1):24-9. doi: 10.1007/BF00281258.
3
NOR activity and satellite association patterns in a family carrying a doubly satellited marker.携带双卫星标记的一个家族中的核仁组织区活性和卫星关联模式。

本文引用的文献

1
Quantitative studies on the arrangement of human metaphase chromosomes. I. Individual features in the association pattern of the acrocentric chromosomes of normal males and females.人类中期染色体排列的定量研究。I. 正常男性和女性近端着丝粒染色体联合模式的个体特征。
Cytogenetics. 1968;7(6):455-70.
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Satellite association and variations in length of the nucleolar constriction of normal and variant human G chromosomes.正常和变异人类G组染色体的随体联合及核仁缢痕长度变异
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Quantitative studies on the arrangement of human metaphase chromosomes. IV. The association frequency of human acrocentric marker chromosomes.
Hum Genet. 1983;63(3):238-40. doi: 10.1007/BF00284656.
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Variability of the nucleolar organizer activity in human lymphocytes via Ag-staining.通过银染法检测人类淋巴细胞核仁组织区活性的变异性
Hum Genet. 1981;59(2):141-7. doi: 10.1007/BF00293064.
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Hum Genet. 1980;55(2):227-9. doi: 10.1007/BF00291771.
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Satellite associations and NOR staining in mitoses of trisomy 21 mosaicism.21三体嵌合体有丝分裂中的卫星联合及核仁组织区染色
Hum Genet. 1980;55(1):115-7. doi: 10.1007/BF00329136.
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Quantitative studies on the arrangement of human metaphase chromosomes. VII. The association pattern of acrocentric chromosomes in carriers of Robertsonian translocations and in their relatives with normal karyotypes.人类中期染色体排列的定量研究。VII. 罗伯逊易位携带者及其核型正常亲属中近端着丝粒染色体的联合模式。
Hum Genet. 1979 Nov 1;52(1):119-25. doi: 10.1007/BF00284605.
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Dicentric Robertsonian translocation in man. 17 cases studied by R,C, and N banding.人类双着丝粒罗伯逊易位。17例经R、C和N显带研究。
Hum Genet. 1979;50(1):33-8. doi: 10.1007/BF00295586.
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Quantitative studies on the arrangement of human metaphase chromosomes. VI. The association pattern of acrocentric chromosomes in patients with trisomy 13.人类中期染色体排列的定量研究。VI. 13三体综合征患者近端着丝粒染色体的关联模式。
Hum Genet. 1979 Jun 19;49(2):185-9. doi: 10.1007/BF00277641.
人类中期染色体排列的定量研究。IV. 人类近端着丝粒标记染色体的联合频率。
Humangenetik. 1974;23(4):259-65. doi: 10.1007/BF00272509.
4
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.
5
Letter: Satellite staining of human chromosomes.信件:人类染色体的卫星染色
Lancet. 1974 Oct 5;2(7884):836-7. doi: 10.1016/s0140-6736(74)91097-6.
6
Differential staining of nucleolus organisers in mammalian chromosomes.哺乳动物染色体中核仁组织者的差异染色
Nature. 1973 Nov 16;246(5429):148-50. doi: 10.1038/246148a0.
7
Quantitative studies on the arrangement of human metaphase chromosomes. V. The association pattern of acrocentric chromosomes in human meningiomas after the loss of G and D chromosomes.人类中期染色体排列的定量研究。V. G组和D组染色体缺失后人脑膜瘤中近端着丝粒染色体的联合模式
Hum Genet. 1978 Jan 19;40(2):149-55. doi: 10.1007/BF00272295.
8
Compensatory mechanisms in the satellite association patterns of individuals with Robertsonian translocations.
Hereditas. 1975;81(1):101-12. doi: 10.1111/j.1601-5223.1975.tb01022.x.
9
Identification of nucleolus organizer regions (NORs) in normal and neoplastic human cells by the silver-staining technique.通过银染技术鉴定正常和肿瘤人类细胞中的核仁组织区(NORs)。
Cytogenet Cell Genet. 1977;19(4):185-96. doi: 10.1159/000130808.
10
Frequency of satellite association of human chromosomes is correlated with amount of Ag-staining of the nucleolus organizer region.人类染色体随体联合频率与核仁组织区的银染量相关。
Am J Hum Genet. 1977 Sep;29(5):490-502.