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通过原位杂交将DNA探针定位在18p11.3带,并鉴定出一条小的额外染色体。

DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome.

作者信息

Mattei M G, Philip N, Passage E, Moisan J P, Mandel J L, Mattei J F

出版信息

Hum Genet. 1985;69(3):268-71. doi: 10.1007/BF00293038.

DOI:10.1007/BF00293038
PMID:3980018
Abstract

Recombinant plasmid clone B74 (also named D18 S3) containing a human single-copy DNA segment of 6 kilobases (kb) was localized by in situ hybridization on band p113 of chromosome 18. This probe was then used in cytogenetic diagnosis to identify precisely a small supernumerary chromosome as an isochromosome i(18p).

摘要

包含一段6千碱基(kb)人类单拷贝DNA片段的重组质粒克隆B74(也称为D18 S3)通过原位杂交定位在18号染色体的p113带上。然后该探针被用于细胞遗传学诊断,以准确鉴定一条小的额外染色体为等臂染色体i(18p)。

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1
DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome.通过原位杂交将DNA探针定位在18p11.3带,并鉴定出一条小的额外染色体。
Hum Genet. 1985;69(3):268-71. doi: 10.1007/BF00293038.
2
Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84.
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The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.18号染色体短臂等臂染色体综合征:通过原位杂交对9例病例进行细胞遗传学诊断的确认
Am J Hum Genet. 1990 Sep;47(3):493-8.
4
18p- syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18-specific alphoid DNA sequence.18号染色体短臂缺失综合征:一个罕见病例及通过与18号染色体特异性α卫星DNA序列进行原位杂交的诊断
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Extra small metacentric chromosome identified as i(18p).额外的小中着丝粒染色体被鉴定为i(18p)。
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A small supernumerary marker chromosome X identified by in situ hybridization.通过原位杂交鉴定出的一条小的额外标记X染色体。
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The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting.细胞学无法识别的染色体异常的起源:通过靶向染色体带型描绘确定的6例病例
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引用本文的文献

1
[Tetrasomy 18p syndrome and hearing loss. An unusual case].[18号染色体短臂四体综合征与听力损失。一例罕见病例]
HNO. 2012 Oct;60(10):901-5. doi: 10.1007/s00106-011-2459-9.
2
Detection of chromosome variation in interphase by in situ hybridization with repetitive DNA probes: potential applications to cytogenetic analysis and mutagenicity testing.应用重复 DNA 探针的原位杂交检测间期染色体变异:在细胞遗传学分析和诱变试验中的潜在应用。
Cytotechnology. 1987 Oct;1(1):13-7. doi: 10.1007/BF00351116.
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Cytological analysis and sorting of a human supernumerary minichromosome.

本文引用的文献

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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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Patterns of DNA replication of human chromosomes. II. Replication map and replication model.人类染色体的DNA复制模式。II. 复制图谱与复制模型。
Am J Hum Genet. 1982 Sep;34(5):757-80.
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Chromosomal localization of the human placental lactogen-growth hormone gene cluster to 17q22-24.人胎盘催乳素-生长激素基因簇在染色体上定位于17q22 - 24。
人类多余小染色体的细胞学分析与分选
Cytotechnology. 1987 Oct;1(1):7-12. doi: 10.1007/BF00351115.
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hH-Rev107, a class II tumor suppressor gene, is expressed by post-meiotic testicular germ cells and CIS cells but not by human testicular germ cell tumors.hH-Rev107是一种II类肿瘤抑制基因,由减数分裂后的睾丸生殖细胞和原位癌细胞表达,但不由人类睾丸生殖细胞肿瘤表达。
Oncogene. 2001 Aug 23;20(37):5155-63. doi: 10.1038/sj.onc.1204658.
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Chromosomal localization of three human poly(A)-binding protein genes and four related pseudogenes.三种人类聚腺苷酸结合蛋白基因及四个相关假基因的染色体定位
Hum Genet. 1999 Oct;105(4):347-53. doi: 10.1007/s004399900148.
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Mapping of the galectin-3 gene (LGALS3) to human chromosome 14 at region 14q21-22.
Mamm Genome. 1997 Sep;8(9):706-7. doi: 10.1007/s003359900548.
7
Mouse fgf9 (fibroblast growth factor 9) is localized on chromosome 14.
Mamm Genome. 1997 Aug;8(8):617-8. doi: 10.1007/s003359900516.
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Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.近端15q区域的遗传性DNA扩增:细胞遗传学和分子研究
J Med Genet. 1997 Mar;34(3):217-22. doi: 10.1136/jmg.34.3.217.
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The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart.
Mamm Genome. 1996 Dec;7(12):915-7. doi: 10.1007/s003359900269.
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Mapping of the MR60/ERGIC-53 gene to human chromosome 18q21.3-18q22 by in situ hybridization.
Mamm Genome. 1996 Oct;7(10):791-2. doi: 10.1007/s003359900238.
Am J Hum Genet. 1982 Mar;34(2):227-34.
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Localization of a unique gene by direct hybridization in situ.通过直接原位杂交对一个独特基因进行定位。
Proc Natl Acad Sci U S A. 1981 Jun;78(6):3755-9. doi: 10.1073/pnas.78.6.3755.
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Localization of the restriction fragment length polymorphism D14S1 (pAW-101) to chromosome 14q32.1 leads to 32.2 by in situ hybridization.通过原位杂交将限制性片段长度多态性D14S1(pAW - 101)定位到14号染色体q32.1区域,该区域范围为32.2 。
Am J Hum Genet. 1983 Nov;35(6):1097-106.
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Localization of the beta-globin gene by chromosomal in situ hybridization.通过染色体原位杂交对β-珠蛋白基因进行定位。
Am J Hum Genet. 1984 May;36(3):576-85.
7
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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Localization of the human alpha-globin gene cluster to the short arm of chromosome 16 (16p12-16pter) by hybridization in situ.
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Chromosomal localization of a single copy gene by in situ hybridization--human beta globin genes on the short arm of chromosome 11.通过原位杂交对单拷贝基因进行染色体定位——11号染色体短臂上的人类β珠蛋白基因
Ann Hum Genet. 1981 May;45(2):135-41. doi: 10.1111/j.1469-1809.1981.tb00315.x.
10
New Giemsa method for the differential staining of sister chromatids.用于姐妹染色单体鉴别染色的新吉姆萨方法。
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