Molecular analysis of neurofibromatosis type 1 mutations
Molecular analysis of neurofibromatosis type 1 mutations
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1 型神经纤维瘤病突变的分子分析
DOI：
10.1002/humu.1380010604
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发表时间：
1992
期刊：
影响因子：
3.9
通讯作者：
B. Ponder
中科院分区：
文献类型：
--
作者：
Xu Weiming;Qiaoli Yu;L. Lizhi;M. Ponder;M. Wallace;Xu Gangfeng;B. Ponder
我们对115名无关的NF 1个体进行了NF 1基因3′区突变的检测，使用Southern印迹和外显子聚合酶链反应扩增，然后进行单链构象多态性（SSCP）分析。我们只发现了2个明确的突变：一个571 bp的缺失，删除外显子6，并导致在外显子7的移码，和外显子1的2 bp的缺失。预测通过SSCP检测到的第三个序列变异导致外显子6中的赖氨酸-精氨酸取代。这是一个保守的变化，由于受影响的个体是一个新的突变，其父母不可用，我们不能确定其生物学意义。我们在最多3%的个体中检测到突变，通过SSCP分析覆盖了17%的编码序列，通过Southern印迹分析覆盖了更大的区域。检测突变的相对失败与其他人的经验一致。即使考虑到所用方法的不完全灵敏度，结果也表明大多数NF 1突变位于编码序列中的其他位置或其外部。
We have examined a panel of 115 unrelated NF1 individuals for mutation in the 3′ region of the NF1 gene, using Southern blotting and polymerase chain reaction amplification of exons followed by single‐strand conformation polymorphism (SSCP) analysis. We found only 2 unequivocal mutations: a 571 bp deletion which removed exon 6 and resulted in a frameshift in exon 7, and a 2 bp deletion in exon 1. A third sequence variation detected by SSCP was predicted to cause a lysine‐arginine substitution in exon 6. This is a conservative change, and since the affected individual is a new mutation whose parents are not available, we cannot be sure of its biological significance. We detected mutations in at most 3% of individuals, from an analysis which covered 17% of the coding sequence by SSCP and a larger region by Southern blotting. This relative failure to detect mutations accords with the experience of others. Even allowing for the incomplete sensitivity of the methods used, the results suggest that the majority of NF1 mutations lie elsewhere in the coding sequence or outside it. © 1992 Wiley‐Liss, Inc.
影响因子：
56.9
作者：
WALLACE, MR;MARCHUK, DA;COLLINS, FS
通讯作者：
COLLINS, FS
影响因子：
4.4
作者：
MARCHUK, DA;SAULINO, AM;COLLINS, FS
通讯作者：
COLLINS, FS
通过 RNA 单链构象多态性 (rSSCP) 筛选突变：与 DNA-SSCP 的比较。
影响因子：
14.9
作者：
Sarkar,G;Yoon,HS;Sommer,SS
通讯作者：
Sommer,SS