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详细的图谱绘制和杂合性缺失分析表明,在染色体带17p13.3的远端区域存在一个与散发性乳腺癌相关的抑制基因座。

Detailed mapping and loss of heterozygosity analysis suggests a suppressor locus involved in sporadic breast cancer within a distal region of chromosome band 17p13.3.

作者信息

Stack M, Jones D, White G, Liscia D S, Venesio T, Casey G, Crichton D, Varley J, Mitchell E, Heighway J

机构信息

CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital, Manchester, UK.

出版信息

Hum Mol Genet. 1995 Nov;4(11):2047-55. doi: 10.1093/hmg/4.11.2047.

DOI:10.1093/hmg/4.11.2047
PMID:8589680
Abstract

The chromosome region 17p13.3 is thought to encode a tumour suppressor gene involved in sporadic breast cancer and other malignancies. Physical ordering of markers has been carried out by a series of multicolour fluorescent in situ hybridisation (FISH) experiments, using isolated yeast artificial chromosomes (YACs) and cosmids. Eight polymorphic markers ordered within this new physical map and one external marker were used to investigate the pattern of loss of heterozygosity in a panel of 40 sporadic breast tumour patients. The data revealed a region of high loss (60%) within distal 17p13.3, defined by markers D17S926, D17S695 and D17S849 which mapped close together. A contig of YACs was constructed physically linking these three markers.

摘要

人们认为,染色体区域17p13.3编码一种与散发性乳腺癌及其他恶性肿瘤相关的肿瘤抑制基因。通过一系列多色荧光原位杂交(FISH)实验,利用分离出的酵母人工染色体(YAC)和黏粒,对标记物进行了物理排序。在这个新的物理图谱中排序的8个多态性标记物和1个外部标记物被用于研究40名散发性乳腺肿瘤患者样本中的杂合性缺失模式。数据显示,在17p13.3远端存在一个高缺失区域(60%),该区域由紧密连锁的标记物D17S926、D17S695和D17S849界定。构建了一个YAC重叠群,将这三个标记物进行物理连接。

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Detailed mapping and loss of heterozygosity analysis suggests a suppressor locus involved in sporadic breast cancer within a distal region of chromosome band 17p13.3.详细的图谱绘制和杂合性缺失分析表明,在染色体带17p13.3的远端区域存在一个与散发性乳腺癌相关的抑制基因座。
Hum Mol Genet. 1995 Nov;4(11):2047-55. doi: 10.1093/hmg/4.11.2047.
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Proc Natl Acad Sci U S A. 1996 Jan 23;93(2):690-4. doi: 10.1073/pnas.93.2.690.

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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
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