Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band l6p13 occurs in sporadic as well as TSC‐associated renal angiomyolipomas
Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band l6p13 occurs in sporadic as well as TSC‐associated renal angiomyolipomas
复制标题
散发性以及 TSC 相关的肾血管平滑肌脂肪瘤中，染色体带 l6p13 的结节性硬化症 (TSC2) 区域杂合性缺失
DOI：
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
D. Kwiatkowski
中科院分区：
文献类型：
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作者：
E. Henske;H. Neumann;B. Scheithauer;E. Herbst;M. Short;D. Kwiatkowski
血管肌脂肪瘤(AML)是一种肾脏肿瘤，既可散在发生，也可与结节性硬化症(TSC)相关。TSC是一种常染色体显性遗传病，以多器官错构瘤性病变为特征。在9q34和16pl3上分别识别出两个TSC基因座Tsc1和Tsc2。TSC患者皮损中TSCI和TSC2基因座的杂合性缺失(LOH)最近已有报道。与TSC无关的病变以前没有在TSC基因座检查过杂合性缺失。我们分析了29例来自无TSC病史患者的肾血管平滑肌脂肪瘤。3个肿瘤在I6p13上出现LOH。这是第一个表明TSC2突变发生在没有TSC的患者的肿瘤中的报道。我们还在8个与TSC相关的AML中的5个发现了I6p13上的杂合性缺失。其中两个肿瘤来自同一患者，表现为不同区域的杂合性缺失。这些发现支持了TSC2基因作为肿瘤抑制因子的假设。
Angiomyolipomas (AMLs) are renal tumors that occur both sporadically and in association with tuberous sclerosis (TSC). TSC is an autosomal dominant disorder characterized by hamartomatous lesions in multiple organs. Two TSC loci are recognized TSCl on 9q34 and TSC2 on 16pl3. Loss of heterozygosity (LOH) at the TSCI and TSC2 loci in lesions from TSC patients has recently been reported. Lesions that are not associated with TSC have not been previously examined for LOH at the TSC loci. We analyzed 29 renal angiomyolipomas from patients without a history of TSC. Three tumors demonstrated LOH on I6p 13. This is the first report indicating that mutations in TSC2 occur in tumors of patients who do not have TSC. We also found LOH on I6p 13 in 5 of 8 TSC‐associated AMLs. Two of these tumors were from a single patient and demonstrated different regions of LOH. These findings support the hypothesis that the TSC2 gene functions as a tumor suppressor.
ABL 和 D9S114 之间的人 9q34.1 的 5.4 Mb 连续脉冲场凝胶电泳图，包括结节性硬化症 (TSC1) 区域。
DOI：
10.1006/geno.1995.1113
发表时间：
1995
期刊：
Genomics.
影响因子：
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作者：
Henske,EP;Kwiatkowski,DJ
通讯作者：
Kwiatkowski,DJ
常染色体显性多囊肾病基因 (PKD1) 区域的连锁不平衡。
影响因子：
9.8
作者：
Snarey,A;Thomas,S;Schneider,MC;Pound,SE;Barton,N;Wright,AF;Somlo,S;Germino,GG;Harris,PC;Reeders,ST
通讯作者：
Reeders,ST