Medium-sized deletion in the BRCA1 gene: Limitations of Sanger sequencing and MLPA analyses.
Medium-sized deletion in the BRCA1 gene: Limitations of Sanger sequencing and MLPA analyses.
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DOI：
10.1590/s1415-47572012005000001
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发表时间：
2012-01
影响因子：
2.1
通讯作者：
Deissler H
中科院分区：
文献类型：
--
作者：
Herman S;Varga D;Deissler HL;Kreienberg R;Deissler H
我们描述了一个有乳腺癌和卵巢癌病史的家族，其中BRCA1基因的MLPA分析指出了一个缺失，包括外显子11的一部分。进一步的表征证实了在常规测序完全覆盖的区域中374 bp的缺失，常规测序没有显示缺失。因为这种改变只是偶然发现的MLPA探针，我们计算的方法，包括初始PCR扩增检测大外显子中的中等大小的缺失的概率。这表明，相当一部分中等大小的缺失是无法检测到目前使用的标准方法的突变分析。我们的结论是，长，广泛重叠的扩增子应使用，以尽量减少丢失的中等大小的缺失的风险。或者，大外显子可以完全覆盖窄间距MLPA探针。
We describe a family with a history of breast and ovarian cancer in which MLPA analysis of the BRCA1 gene pointed to a deletion including a part of exon 11. Further characterization confirmed a loss of 374 bp in a region completely covered by conventional sequencing which had not revealed the deletion. Because this alteration was only detected serendipitously with an MLPA probe, we calculated the probabilities of detecting medium-sized deletions in large exons by methods including initial PCR amplification. This showed that a considerable fraction of medium-sized deletions are undetectable by currently used standard methods of mutation analyses. We conclude that long, widely overlapping amplicons should be used to minimize the risk of missing medium-sized deletions. Alternatively, large exons could be completely covered by narrow-spaced MLPA probes.
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影响因子：
64.8
作者：
WOOSTER, R;BIGNELL, G;STRATTON, MR
通讯作者：
STRATTON, MR
DOI：
10.1016/s1570-0232(02)00696-7
发表时间：
2002-12-25
影响因子：
3
作者：
Arnold, N;Peper, H;Jonat, W
通讯作者：
Jonat, W
影响因子：
3.9
作者：
van der Stoep, Nienke;van Paridon, Chantal D. M.;Bakker, Egbert
通讯作者：
Bakker, Egbert
影响因子：
56.9
作者：
MIKI, Y;SWENSEN, J;SKOLNICK, MH
通讯作者：
SKOLNICK, MH
影响因子：
56.9
作者：
King, MC;Marks, JH;Mandell, JB
通讯作者：
Mandell, JB