Two novel mutations in exons 19a and 20 and a Bsal polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene
Two novel mutations in exons 19a and 20 and a Bsal polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene
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DOI：
10.1007/s004390050706
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发表时间：
1998-03-01
期刊：
影响因子：
5.3
通讯作者：
Peters, H
中科院分区：
文献类型：
--
作者：
Klose, A;Robinson, PN;Peters, H
1 型神经纤维瘤病 (NF1) 是一种常见的常染色体显性遗传疾病。它是由 NF1 基因突变引起的，该基因包含 60 个外显子，位于染色体 17q11.2 上。通过温度梯度凝胶电泳对总共 170 名无关的 NF1 患者进行了四个外显子突变的筛查。准备工作揭示了先前指定的外显子 19 中存在先前未表征的内含子 (19a)；这使我们能够开发针对新定义的外显子 19a 和 19b 的基因组突变筛选分析方法。检测到两个新的 NF1 突变：外显子 19a 中的单碱基插入产生移码，以及影响内含子 20 剪接供体位点并导致外显子 20 跳跃的第二个突变。在内含子 19a 中鉴定出新的 BsaBI 多态性。
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder. It is caused by mutations in the NF1 gene, which comprises 60 exons and is located on chromosome 17q11.2. A total of 170 unrelated NF1 patients were screened for mutations in four exons by temperature-gradient gel electrophoresis. Preparatory work revealed the presence of a previously uncharacterized intron (19a) in what was previously designated exon 19; this allowed us to develop assays for genomic mutation screening in the newly defined exons 19a and 19b. Two novel NF1 mutations were detected: a single-base insertion in exon 19a creating a frameshift, and a second mutation affecting the splice donor site of intron 20 and leading to skipping of exon 20. A novel BsaBI polymorphism was identified in intron 19a.