INTEGRATED YAC CONTIG CONTAINING THE 3P14.2 HEREDITARY RENAL-CARCINOMA 3-8-TRANSLOCATION BREAKPOINT AND THE FRAGILE SITE FRA3B

INTEGRATED YAC CONTIG CONTAINING THE 3P14.2 HEREDITARY RENAL-CARCINOMA 3-8-TRANSLOCATION BREAKPOINT AND THE FRAGILE SITE FRA3B
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DOI:
10.1002/gcc.2870110403
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发表时间:
1994-12-01
影响因子:
3.7
通讯作者:
DRABKIN, HA
DRABKIN, HA
中科院分区:
医学2区
文献类型:
--
作者:
BOLDOG, FL;WAGGONER, B;DRABKIN, HA

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已开发了一个延伸的YAC重叠群的3 p14区域包含遗传性肾癌3;8易位断裂点和3p14.2脆性位点FRA 3B。3号染色体的这一区域与几种恶性疾病的发病机制中的染色体易位、缺失和杂合性丢失有关。重叠群允许候选基因、多态性标记和该区域内的其他3 p重排的准确定位。重叠群,跨越约6 Mb的DNA,包含51个YAC由27个标记,包括位于3p14.1-14.2区间的CA重复的子集确定。CA微卫星的顺序,来自YAC的标记内容,是在以前确定的遗传连锁研究的顺序一致。我们发现,蛋白酪氨酸磷酸酶γ基因,PTPRG,位于最低限度1 Mb的t(3;8)断点附近。在小细胞肺癌细胞系U2020中,更近端的3 p纯合缺失距离3;8易位位点超过5 Mb。这一综合的物理和遗传图谱为进一步研究与近端3 p丢失相关的恶性疾病提供了框架。此外,单独的3p14.2 aphidicolin诱导的断点的定位表明FRA 3B可能代表一个区域而不是单个位点。(C)1994 Wiley-Liss,Inc.
An extended YAC contig has been developed for the 3p14 region containing the hereditary renal carcinoma 3;8 translocation breakpoint and the 3p14.2 fragile site FRA3B. This region of chromosome 3 has been implicated by chromosomal translocation, deletion, and loss of heterozygosity in the pathogenesis of several malignant diseases. The contig allows accurate positioning of candidate genes, polymorphic markers, and other 3p rearrangements within this region. The contig, spanning approximately 6 Mb of DNA, contains 51 YACs identified by 27 markers, including a subset of CA repeats located in the 3p14.1-14.2 interval. The order of CA microsatellites, derived from marker content of the YACs, is in agreement with the order previously determined by genetic linkage studies. We find that the protein-tyrosine phosphatase gamma gene, PTPRG, is located minimally 1 Mb proximal to the t(3;8) breakpoint. The more proximal 3p homozygous deletion in the small-cell lung cancer cell line, U2020, is more than 5 Mb from the site of the 3;8 translocation. This integrated physical and genetic map provides a framework for further investigations of malignant diseases associated with proximal 3p loss. In addition, the positioning of separate 3p14.2 aphidicolin-induced breakpoints suggests that FRA3B may represent a region rather than a single site. (C) 1994 Wiley-Liss, Inc.