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染色体涂染技术对相互易位的分析：该技术的应用与局限性

Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique.

作者信息

Rosenberg C, Blakemore K J, Kearns W G, Giraldez R A, Escallon C S, Pearson P L, Stetten G

机构信息

Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.

出版信息

Am J Hum Genet. 1992 Apr;50(4):700-5.

PMID:1550115
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682652/
Abstract

Fluorescent in situ hybridization with chromosome-specific DNA libraries (chromosome painting) is an important new method for assessing chromosome rearrangements. In the research presented in this paper, two familial reciprocal translocations have been studied in the balanced and unbalanced forms, using both traditional G-banding techniques and chromosome painting. Although for each case two chromosomes were involved in the rearrangement, we found that only one chromosome library was suitable for detecting the translocation. These findings illustrate both the potential and the limitations of chromosome painting as a diagnostic tool in cytogenetics.

摘要

使用染色体特异性DNA文库进行荧光原位杂交（染色体描绘）是评估染色体重排的一种重要新方法。在本文所介绍的研究中，利用传统的G显带技术和染色体描绘，对两个家族性相互易位的平衡型和不平衡型进行了研究。虽然每个病例中重排涉及两条染色体，但我们发现仅一个染色体文库适用于检测该易位。这些发现阐明了染色体描绘作为细胞遗传学诊断工具的潜力和局限性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca0e/1682652/7173522a8694/ajhg00075-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca0e/1682652/a07e3e5874b5/ajhg00075-0045-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca0e/1682652/5c293a83d8ea/ajhg00075-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca0e/1682652/b2916b17ae38/ajhg00075-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca0e/1682652/7173522a8694/ajhg00075-0047-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca0e/1682652/a07e3e5874b5/ajhg00075-0045-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca0e/1682652/5c293a83d8ea/ajhg00075-0044-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca0e/1682652/b2916b17ae38/ajhg00075-0046-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca0e/1682652/7173522a8694/ajhg00075-0047-a.jpg

相似文献

1
Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique.染色体涂染技术对相互易位的分析：该技术的应用与局限性
Am J Hum Genet. 1992 Apr;50(4):700-5.
2
Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14', 15, and 21 leading to balanced and unbalanced rearrangements in offspring.一名携带涉及14号、14'号、15号和21号染色体的两个相互易位的男性发生重组，导致其后代出现平衡和不平衡的重排。
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3
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4
[In situ ++hybridization with painting probes in the definition of reciprocal translocations].
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5
Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting.
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Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis.在羊膜穿刺术时，涉及除 21 号染色体以外的其他染色体的不平衡和平衡的近端着丝粒染色体重排。
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Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes.荧光原位杂交（FISH）研究表明，在普拉德-威利综合征和安吉尔曼综合征中，涉及15号染色体的三例不平衡易位中，相互易位染色体上的端粒缺失。
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Identification of complex chromosome rearrangements in the gibbon by fluorescent in situ hybridization (FISH) of a human chromosome 2q specific microlibrary, yeast artificial chromosomes, and reciprocal chromosome painting.通过对人类2号染色体长臂特异性微文库、酵母人工染色体进行荧光原位杂交（FISH）以及相互染色体涂染，鉴定长臂猿复杂染色体重排。
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Fluorescene in situ hybridization establishes homology between human and silvered leaf monkey chromosomes, reveals reciprocal translocations between chromosomes homologous to human Y/5, 1/9, and 6/16, and delineates an X1X2Y1Y2/X1X1X2X2 sex-chromosome system.荧光原位杂交确定了人类和银叶猴染色体之间的同源性，揭示了与人类Y/5、1/9和6/16同源的染色体之间的相互易位，并描绘了一个X1X2Y1Y2/X1X1X2X2性染色体系统。
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Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.染色质结构域解旋酶DNA结合蛋白2（CHD2）的破坏会导致脊柱侧弯。
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Genetic factors in congenital diaphragmatic hernia.先天性膈疝的遗传因素。

本文引用的文献

1
A simple method of reducing the fading of immunofluorescence during microscopy.一种减少显微镜检查期间免疫荧光褪色的简单方法。
J Immunol Methods. 1981;43(3):349-50. doi: 10.1016/0022-1759(81)90183-6.
2
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy.妊娠早期绒毛膜绒毛样本的高效直接染色体分析和酶测定。
Hum Genet. 1983;63(4):349-57. doi: 10.1007/BF00274761.
3
A rapid banding technique for human chromosomes.一种用于人类染色体的快速显带技术。
Am J Hum Genet. 2007 May;80(5):825-45. doi: 10.1086/513442. Epub 2007 Apr 4.
4
Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.先天性膈疝与15号染色体长臂26区：运用荧光原位杂交和基于芯片的比较基因组杂交技术确定候选区域
Am J Hum Genet. 2005 May;76(5):877-82. doi: 10.1086/429842. Epub 2005 Mar 4.
5
Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.通过高分辨率显带和荧光原位杂交（FISH）对涉及3号染色体长臂、6号染色体长臂和15号染色体长臂的家族性三向易位进行分析，结果显示两个同胞具有两种不同的不平衡核型。
J Med Genet. 1998 Jul;35(7):545-53. doi: 10.1136/jmg.35.7.545.
6
A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.一种用于特发性智力障碍患者隐匿性端粒易位筛查的新策略。
J Med Genet. 1998 Mar;35(3):225-33. doi: 10.1136/jmg.35.3.225.
7
Diagnosis of a complex chromosomal rearrangement using fluorescent in situ hybridisation.使用荧光原位杂交技术诊断复杂染色体重排
J Med Genet. 1996 Sep;33(9):793-4. doi: 10.1136/jmg.33.9.793.
8
Chromosome 'painting' in plants - a feasible technique?植物中的染色体“描绘”——一种可行的技术？
Chromosoma. 1996;104(5):315-20. doi: 10.1007/BF00337219.
9
A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization.产前检测到的一种复杂染色体重排，并通过荧光原位杂交进行研究。
Hum Genet. 1993 Sep;92(2):117-21. doi: 10.1007/BF00219677.
10
Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms.不明原因智力迟钝中隐匿性染色体异常的检测：一种使用高变亚端粒DNA多态性的通用策略。
Am J Hum Genet. 1993 Sep;53(3):688-701.
Lancet. 1971 Oct 30;2(7731):971-2. doi: 10.1016/s0140-6736(71)90287-x.
4
Chromosome mosaicism and maternal cell contamination in chorionic villi.绒毛膜绒毛中的染色体嵌合体与母体细胞污染
Prenat Diagn. 1987 Oct;7(8):535-42. doi: 10.1002/pd.1970070802.
5
Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries.利用重组DNA文库通过原位抑制杂交技术描绘中期和间期细胞中的单个人类染色体。
Hum Genet. 1988 Nov;80(3):224-34. doi: 10.1007/BF01790090.
6
Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21.人类α卫星重复DNA的两个亚群在13号、18号和21号染色体的着丝粒周围区域表现出明显的优先定位。
Cytogenet Cell Genet. 1986;41(4):193-201. doi: 10.1159/000132229.
7
Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.使用人类染色体特异性文库进行荧光原位杂交：检测21三体和4号染色体易位
Proc Natl Acad Sci U S A. 1988 Dec;85(23):9138-42. doi: 10.1073/pnas.85.23.9138.
8
Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics.人类性染色体和常染色体的染色体原位抑制杂交及其在临床细胞遗传学中的应用。
Hum Genet. 1990 Jul;85(2):145-50. doi: 10.1007/BF00193186.