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内分泌学中的染色体荧光原位杂交技术

FISHing chromosomes in endocrinology.

作者信息

Kontogeorgos G, Kovacs K

机构信息

Department of Pathology, General Hospital of Athens, 154 Messogion Avenue, 115 27, Athens, Greece,

出版信息

Endocrine. 1996 Dec;5(3):235-40. doi: 10.1007/BF02739055.

DOI:10.1007/BF02739055
PMID:21153073
Abstract

Fluorescencein situ hybridization (FISH) is currently recognized as a reliable, sensitive, and reproducible technique for identification of copy number and structure of chromosomes providing information on the single-cell level. The technique permits cytogenetic investigation of metaphase spreads and interphase nuclei. Several protocols have been used for preparations from fresh samples or archival material. Alphoid or telomeric DNA probes can detect specific chromosomes, and cosmid probes can localize single copies of the segment of interest. FISH is a powerful tool in understanding physiologic mechanisms, in generating high-resolution physical genetic maps, and in resolving problems of the pathogenesis of several diseases. FISH may shed light on the cytogenetic background and chromosomal alterations in the field of endocrinology, resulting in a better understanding of functional activities and various endocrine disorders.

摘要

荧光原位杂交(FISH)目前被认为是一种可靠、灵敏且可重复的技术,用于识别染色体的拷贝数和结构,可在单细胞水平上提供信息。该技术允许对中期染色体 spreads 和间期核进行细胞遗传学研究。已经使用了几种方案来从新鲜样本或存档材料中进行制备。α卫星或端粒 DNA 探针可以检测特定染色体,黏粒探针可以定位感兴趣片段的单拷贝。FISH 是理解生理机制、生成高分辨率物理遗传图谱以及解决几种疾病发病机制问题的有力工具。FISH 可能有助于阐明内分泌学领域的细胞遗传学背景和染色体改变,从而更好地理解功能活动和各种内分泌疾病。

相似文献

1
FISHing chromosomes in endocrinology.内分泌学中的染色体荧光原位杂交技术
Endocrine. 1996 Dec;5(3):235-40. doi: 10.1007/BF02739055.
2
The Art and Applications of Fluorescence In Situ Hybridization in Endocrine Pathology.荧光原位杂交技术在内分泌病理学中的艺术与应用
Endocr Pathol. 2000 Summer;11(2):123-136. doi: 10.1385/ep:11:2:123.
3
Rapid fluorescence in situ hybridization with repetitive DNA probes: quantification by digital image analysis.使用重复DNA探针的快速荧光原位杂交:通过数字图像分析进行定量
Cytometry. 1994 Sep 1;17(1):13-25. doi: 10.1002/cyto.990170103.
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[Study of alpha-satellite DNA in cosmid libraries, specific for chromosomes 13, 21, and 22, using fluorescence in situ hybridization].[使用荧光原位杂交技术对13号、21号和22号染色体特异性黏粒文库中的α卫星DNA进行研究]
Genetika. 1998 Nov;34(11):1470-9.
5
An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics.一种用于应用人类分子细胞遗传学的荧光原位杂交(FISH)信号定量评估方法。
J Histochem Cytochem. 2005 Mar;53(3):401-8. doi: 10.1369/jhc.4A6419.2005.
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Interphase cytogenetics of hematological cancer: comparison of classical karyotyping and in situ hybridization using a panel of eleven chromosome specific DNA probes.血液系统恶性肿瘤的间期细胞遗传学:使用一组11种染色体特异性DNA探针比较经典核型分析和原位杂交
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Interphase fluorescence in situ hybridization mapping: a physical mapping strategy for plant species with large complex genomes.间期荧光原位杂交图谱构建:一种针对具有大型复杂基因组的植物物种的物理图谱构建策略。
Mol Gen Genet. 1996 Oct 16;252(5):497-502. doi: 10.1007/BF02172395.
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Molecular cytogenetics of pituitary adenomas, assessed by FISH technique.通过荧光原位杂交(FISH)技术评估垂体腺瘤的分子细胞遗传学。
Front Horm Res. 2004;32:205-16. doi: 10.1159/000079046.
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Multicolor 3D fluorescence in situ hybridization for imaging interphase chromosomes.用于间期染色体成像的多色三维荧光原位杂交技术。
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10
Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes.通过对间期和中期羊水细胞进行荧光原位杂交(FISH)检测13、18或21号染色体的非整倍体情况。
Am J Hum Genet. 1991 Jul;49(1):112-9.

引用本文的文献

1
The Art and Applications of Fluorescence In Situ Hybridization in Endocrine Pathology.荧光原位杂交技术在内分泌病理学中的艺术与应用
Endocr Pathol. 2000 Summer;11(2):123-136. doi: 10.1385/ep:11:2:123.
2
Telomeres and telomerase in endocrine pathology.内分泌病理学中的端粒与端粒酶
Endocrine. 1998 Oct;9(2):133-8. doi: 10.1385/ENDO:9:2:133.

本文引用的文献

1
Y Chromosomal Sequences Identified in Gonadal Tissue of Two 45,X Patients with Turner Syndrome.在两名患有特纳综合征的45,X患者的性腺组织中鉴定出的Y染色体序列。
Endocr Pathol. 1995 Winter;6(4):311-322. doi: 10.1007/BF02738731.
2
Interphase Analysis of Chromosome 11 in Human Pituitary Somatotroph Adenomas by Direct Fluorescence In Situ Hybridization.应用直接荧光原位杂交技术对人垂体生长激素腺瘤11号染色体进行间期分析
Endocr Pathol. 1996 Autumn;7(3):203-206. doi: 10.1007/BF02739922.
3
Evaluation of chromosome 12 copy number in ovarian granulosa cell tumors using interphase cytogenetics.
Int J Gynecol Pathol. 1995 Oct;14(4):319-23. doi: 10.1097/00004347-199510000-00006.
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Chromosomal localization of the human V3 pituitary vasopressin receptor gene (AVPR3) to 1q32.
Genomics. 1995 Nov 20;30(2):405-6.
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Infant with mos45,x/46,XY/47,XYY/48,XYYY: genetic and clinical findings.患有mos45,X/46,XY/47,XYY/48,XYYY的婴儿:遗传学和临床发现
Am J Med Genet. 1995 Dec 4;59(4):435-40. doi: 10.1002/ajmg.1320590408.
6
Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-colour FISH in a 46,XY/47,XXY male.通过三色荧光原位杂交技术在一名46,XY/47,XXY男性中检测到超单倍体24,XY精子发生率增加。
Hum Genet. 1996 Feb;97(2):171-5. doi: 10.1007/BF02265260.
7
Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries.一名患有前脑无裂畸形、22q11.2缺失综合征和条索状卵巢的女孩存在18号染色体长臂等臂染色体。
Am J Med Genet. 1993 Aug 1;47(1):85-8. doi: 10.1002/ajmg.1320470117.
8
Thick-section fluorescence in situ hybridization on formalin-fixed, paraffin-embedded archival tissue provides a histogenetic profile.对福尔马林固定、石蜡包埋的存档组织进行厚切片荧光原位杂交可提供组织发生学图谱。
Am J Pathol. 1994 Feb;144(2):237-43.
9
Detection of trisomy 12 on ovarian sex cord stromal tumors by fluorescence in situ hybridization.通过荧光原位杂交检测卵巢性索间质肿瘤中的12号染色体三体。
Diagn Mol Pathol. 1993 Jun;2(2):94-8.
10
Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization.
Am J Med Genet. 1993 Aug 15;47(2):223-30. doi: 10.1002/ajmg.1320470217.