Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family.
Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family.
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DOI：
10.1002/humu.9148
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发表时间：
2003-06-01
期刊：
影响因子：
3.9
通讯作者：
Stoppa-Lyonnet, Dominique
中科院分区：
文献类型：
--
作者：
Gad, Sophie;Bieche, Ivan;Stoppa-Lyonnet, Dominique
先前使用基于定量PCR的方法(QMPSF和实时聚合酶链式反应基因剂量分析)在一名患有乳腺癌和卵巢癌的妇女中检测到移除BRCA1基因第1至22外显子的大的生殖系缺失。在这里，我们报告了通过在BRCA1区域的梳理DNA上使用彩色条形码来表征它。5‘边界位于NBR1内含子18中的Alu Y序列中，而3’边界位于BRCA1内含子22中的Alu SC序列中。这个161 kb的缺失包括NBR1、PsiBRCA1、NBR2和BRCA1基因，是迄今为止报道的最大的BRCA1缺失。没有特定的表型与这四个基因的半合性相关。
A large germline deletion removing exons 1 to 22 of the BRCA1 gene has been previously detected using quantitative PCR based methods (QMPSF and real time PCR gene dosage assay) in a woman affected with breast and ovarian cancer. Here, we report its characterisation by using colour bar code on combed DNA of the BRCA1 region. The 5' boundary is located in a Alu Y sequence in NBR1 intron 18 whereas the 3' boundary is located in a Alu Sc sequence in BRCA1 intron 22. This 161 kb deletion encompassing the NBR1, PsiBRCA1, NBR2 and BRCA1 genes is the largest BRCA1 deletion reported so far. No specific phenotype was associated with the hemizygosity of these four genes.