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散布的低拷贝重复DNA的染色体缺失图谱分析

Chromosome deletion mapping of interspersed low-copy repetitive DNA.

作者信息

Funderburk S J, Sparkes R S, Klisak I, Law M L

出版信息

Am J Hum Genet. 1984 Jul;36(4):769-76.

PMID:6089550
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684490/
Abstract

A cloned 2.2 Eco RI segment of interspersed repetitive DNA was hybridized to genomic DNA from a mentally retarded patient with an interstitial deletion in the long arm of one chromosome 12 (12q-). Under hybridization conditions of high stringency, one prominent 2.2-kilobase (kb) Eco RI fragment demonstrated reduced autoradiographic intensity in the 12q- sample compared with several normal controls. These findings indicate that the genomic location for one of the highly or perfectly homologous 2.2-kb Eco RI fragments is in chromosome region 12q21q22, and suggest that a low-copy repetitive DNA probe as used here may have practical utility, as in detecting small deletions or other chromosome alterations.

摘要

一个克隆的散布重复DNA的2.2 Eco RI片段与一名患有12号染色体长臂间质性缺失（12q-）的智障患者的基因组DNA进行杂交。在高严谨度的杂交条件下，与几个正常对照相比，一个突出的2.2千碱基（kb）Eco RI片段在12q-样本中显示出放射自显影片强度降低。这些发现表明，高度或完全同源的2.2 kb Eco RI片段之一的基因组位置在染色体区域12q21q22，并表明这里使用的低拷贝重复DNA探针可能具有实际用途，如检测小缺失或其他染色体改变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/667d/1684490/1cecd461b198/ajhg00166-0045-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/667d/1684490/a6b8aa8b3764/ajhg00166-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/667d/1684490/1cecd461b198/ajhg00166-0045-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/667d/1684490/a6b8aa8b3764/ajhg00166-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/667d/1684490/1cecd461b198/ajhg00166-0045-a.jpg

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引用本文的文献

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本文引用的文献

1
Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization.通过原位杂交对G带人类染色体单拷贝DNA序列进行定位
Chromosoma. 1981;83(3):431-9. doi: 10.1007/BF00327364.
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Repetitive sequences in eukaryotic DNA and their expression.真核生物DNA中的重复序列及其表达。
Annu Rev Biochem. 1982;51:813-44. doi: 10.1146/annurev.bi.51.070182.004121.
3
Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences.利用重复DNA序列对人类11号染色体进行遗传精细结构图谱绘制。
一种与人类癌细胞相关的核蛋白优先结合于一段人类重复DNA序列。
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Proc Natl Acad Sci U S A. 1982 Dec;79(24):7804-8. doi: 10.1073/pnas.79.24.7804.
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Isolation of a human repetitive sequence and its application to regional chromosome mapping.一种人类重复序列的分离及其在区域染色体图谱绘制中的应用。
Proc Natl Acad Sci U S A. 1982 Dec;79(23):7390-4. doi: 10.1073/pnas.79.23.7390.
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High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization.通过原位杂交对淀粉酶、阿片促黑激素皮质素原、生长抑素的人类基因以及一个DNA片段（D3S1）进行高分辨率染色体定位。
Proc Natl Acad Sci U S A. 1983 Nov;80(22):6932-6. doi: 10.1073/pnas.80.22.6932.
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Detection of specific sequences among DNA fragments separated by gel electrophoresis.在通过凝胶电泳分离的DNA片段中检测特定序列。
J Mol Biol. 1975 Nov 5;98(3):503-17. doi: 10.1016/s0022-2836(75)80083-0.
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Genetics of somatic mammalian cells: genetic, immunologic, and biochemical analysis with Chinese hamster cell hybrids containing selected human chromosomes.体细胞哺乳动物细胞遗传学：对含有特定人类染色体的中国仓鼠细胞杂种进行遗传、免疫和生化分析。
Proc Natl Acad Sci U S A. 1976 Jan;73(1):193-7. doi: 10.1073/pnas.73.1.193.
9
Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.通过用DNA聚合酶I进行切口平移在体外将脱氧核糖核酸标记至高比活性。
J Mol Biol. 1977 Jun 15;113(1):237-51. doi: 10.1016/0022-2836(77)90052-3.
10
Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate.通过使用硫酸葡聚糖将大的DNA片段从琼脂糖凝胶高效转移至重氮苄氧基甲基纸并进行快速杂交。
Proc Natl Acad Sci U S A. 1979 Aug;76(8):3683-7. doi: 10.1073/pnas.76.8.3683.