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17号染色体17q12 - q21区域BRCA1基因座的高密度遗传图谱。

High-density genetic map of the BRCA1 region of chromosome 17q12-q21.

作者信息

Anderson L A, Friedman L, Osborne-Lawrence S, Lynch E, Weissenbach J, Bowcock A, King M C

机构信息

Department of Molecular and Cell Biology, University of California, Berkeley 94720.

出版信息

Genomics. 1993 Sep;17(3):618-23. doi: 10.1006/geno.1993.1381.

DOI:10.1006/geno.1993.1381
PMID:8244378
Abstract

To facilitate the positional cloning of the breast-ovarian cancer gene BRCA1, we constructed a high-density genetic map of the 8.3-cM interval between D17S250 and GIP on chromosome 17q12-q21. Markers were mapped by linkage in the CEPH and in extended kindreds in our breast cancer series. The map comprises 33 ordered polymorphisms, including 12 genes and 21 anonymous markers, yielding an average of one polymorphism every 250 kb. Twenty-five of the markers are PCR-based systems. The order of polymorphic genes and markers is cen-D17S250-D17S518-HER2-THRA1-RARA-D17S80 -KRT10-[D17S800-D17S857]-GAS- D17S856-EDH17B-D17S855-D17S859-D17S858-[++ +PPY-D17S78]-D17S183-EPB3-D17S579- D17S509-[D17S508-D17S190 = D17S810]-D17S791-[D17S181 = D17S806]-D17S797- HOX2B-GP3A-[D17S507 = GIP]-qter. BRCA1 lies in the middle of the interval, between THRA1 and D17S183. Markers from this map can be used to determine whether cancer is linked to BRCA1 in families, to evaluate whether tumors have lost heterozygosity at loci in the region, and to identify probes for characterizing chromosomal rearrangements from patients and from tumors.

摘要

为便于对乳腺癌-卵巢癌基因BRCA1进行定位克隆，我们构建了17号染色体q12-q21区域中D17S250与GIP之间8.3厘摩区间的高密度遗传图谱。通过在CEPH家系以及我们的乳腺癌系列扩展家系中进行连锁分析来定位标记。该图谱包含33个有序多态性位点，其中包括12个基因和21个匿名标记，平均每250 kb有一个多态性位点。25个标记基于聚合酶链反应（PCR）系统。多态性基因和标记的顺序为：着丝粒-D17S250-D17S518-人表皮生长因子受体2（HER2）-甲状腺激素受体α1（THRA1）-视黄酸受体α（RARA）-D17S80-角蛋白10（KRT10）-[D17S800-D17S857]-气体相关蛋白（GAS）-D17S856-17β-羟类固醇脱氢酶17B（EDH17B）-D17S855-D17S859-D17S858-[++ +PPY-D17S78]-D17S183-红细胞膜蛋白3（EPB3）-D17S579-D17S509-[D17S508-D17S190 = D17S810]-D17S791-[D17S181 = D17S806]-D17S797-同源盒基因2B（HOX2B）-糖蛋白3A（GP3A）-[D17S507 = GIP]-端粒。BRCA1位于该区间中部，在THRA1和D17S183之间。此图谱中的标记可用于确定家族性癌症是否与BRCA1连锁，评估肿瘤在该区域位点是否发生杂合性缺失，以及鉴定用于表征患者和肿瘤染色体重排的探针。

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High-density genetic map of the BRCA1 region of chromosome 17q12-q21.17号染色体17q12 - q21区域BRCA1基因座的高密度遗传图谱。
Genomics. 1993 Sep;17(3):618-23. doi: 10.1006/geno.1993.1381.
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Multicolor FISH mapping with Alu-PCR-amplified YAC clone DNA determines the order of markers in the BRCA1 region on chromosome 17q12-q21.利用经Alu-PCR扩增的YAC克隆DNA进行多色荧光原位杂交图谱分析，确定了17号染色体q12-q21区域BRCA1基因座上各标记物的顺序。
Genomics. 1993 Sep;17(3):624-31. doi: 10.1006/geno.1993.1382.
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A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21.17号染色体17q12 - 21区域BRCA1基因座的物理图谱及候选基因
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THRA1 and D17S183 flank an interval of < 4 cM for the breast-ovarian cancer gene (BRCA1) on chromosome 17q21.THRA1和D17S183位于17号染色体q21区域的乳腺癌-卵巢癌基因（BRCA1）两侧，间隔小于4厘摩。
Am J Hum Genet. 1993 Apr;52(4):718-22.
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Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line.乳腺癌中THRA1基因的突变分析：BT474细胞系中该基因与17号染色体上一个新序列的缺失/融合
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A radiation hybrid map of the BRCA1 region of chromosome 17q12-q21.
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Loss of heterozygosity of the BRCA1 and other loci on chromosome 17q in human prostate cancer.人类前列腺癌中BRCA1及17号染色体长臂上其他基因座的杂合性缺失
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