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通过荧光原位杂交检测微小相互易位

Detection of subtle reciprocal translocations by fluorescence in situ hybridization.

作者信息

Speleman F, Van Roy N, Wiegant J, Verschraegen-Spae M R, Benoit Y, Govaert P, Goossens L, Leroy J G

机构信息

Department of Medical Genetics, University Hospital, Ghent, Belgium.

出版信息

Clin Genet. 1992 Apr;41(4):169-74. doi: 10.1111/j.1399-0004.1992.tb03657.x.

DOI:10.1111/j.1399-0004.1992.tb03657.x
PMID:1576752
Abstract

Three different subtle reciprocal translocations were detected on long, well-banded chromosomes. The same translocations were examined using fluorescence in situ hybridization (FISH) with chromosome-specific libraries and unique DNA sequences. Our findings show that FISH allows rapid and unequivocal detection and characterization of this type of chromosome rearrangement. This approach is especially useful for prenatal diagnosis when one of the parents is a balanced carrier of such small fragment translocations.

摘要

在长且带型良好的染色体上检测到三种不同的细微相互易位。使用染色体特异性文库和独特的DNA序列，通过荧光原位杂交（FISH）对相同的易位进行了检测。我们的研究结果表明，FISH能够快速、明确地检测和鉴定此类染色体重排。当父母一方是这种小片段易位的平衡携带者时，这种方法对于产前诊断特别有用。

相似文献

1
Detection of subtle reciprocal translocations by fluorescence in situ hybridization.通过荧光原位杂交检测微小相互易位
Clin Genet. 1992 Apr;41(4):169-74. doi: 10.1111/j.1399-0004.1992.tb03657.x.
2
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.
3
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.
4
[In situ ++hybridization with painting probes in the definition of reciprocal translocations].
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Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis.13号和15号染色体长臂近端区域之间的相互易位导致后代染色体不平衡：通过荧光原位杂交和DNA分析进行特征描述。
Hum Genet. 1992 Jun;89(4):407-13. doi: 10.1007/BF00194312.
6
Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.通过阵列比较基因组杂交技术对一名患有明显平衡易位的胎儿进行9q34.3微缺失的产前诊断。
Prenat Diagn. 2007 Dec;27(12):1112-7. doi: 10.1002/pd.1841.
7
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。
Hum Genet. 1995 Sep;96(3):345-9. doi: 10.1007/BF00210421.
8
Development of a biological dosimeter for translocation scoring based on two-color fluorescence in situ hybridization of chromosome subsets.
J Radiat Res. 1992 Mar;33 Suppl:61-70. doi: 10.1269/jrr.33.supplement_61.
9
Prenatal detection of a subtle unbalanced chromosome rearrangement by karyotyping, FISH and array comparative genomic hybridization.通过核型分析、荧光原位杂交和阵列比较基因组杂交技术对细微的染色体不平衡重排进行产前检测。
Fetal Diagn Ther. 2008;24(3):286-90. doi: 10.1159/000158519. Epub 2008 Sep 26.
10
High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement.
Am J Med Genet. 1991 Oct 1;41(1):99-101. doi: 10.1002/ajmg.1320410124.

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Balanced translocations in mental retardation.
智力迟钝中的平衡易位
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Familial complex chromosome rearrangement ascertained by in situ hybridisation.通过原位杂交确定的家族性复杂染色体重排。
J Med Genet. 1997 Feb;34(2):164-6. doi: 10.1136/jmg.34.2.164.
5
Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier.染色体涂染在确定12;16易位携带者后代染色体结果中的价值。
J Med Genet. 1994 Mar;31(3):234-7. doi: 10.1136/jmg.31.3.234.
6
Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis.13号和15号染色体长臂近端区域之间的相互易位导致后代染色体不平衡：通过荧光原位杂交和DNA分析进行特征描述。
Hum Genet. 1992 Jun;89(4):407-13. doi: 10.1007/BF00194312.