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- W207865295 abstract "Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder. The NF1 gene is a large gene, 350kb in size, with at least 51 exons. It has proved hard to detect mutations in the gene by examining genomic DNA due to the high mutation rate and the large size of the gene. Since the cloning of the gene, only 45 causative mutations have been reported from over 500 unrelated NF1 patients screened. The coding sequence of the NF1 gene is approximately 3% of the genomic sequence; it will therefore be easier to search for unknown mutations by the study of mRNA. We describe a simple RT-PCR-based strategy to amplify the total coding sequence of the NF1 transcript from peripheral blood lymphocyte RNA. This strategy involves an initial cDNA synthesis step utilizing a set of random hexamers, followed by two consecutive rounds of PCR amplifications. The first round of amplification was performed using four NF1-specific nested primer pairs. This amplification allows the construction of overlapping fragments which span a 8694 bp cDNA sequence of the gene. For mutation analysis, the amplified products or their digests were subjected to electrophoresis on Hydrolink gels. Two disease-causing mutations, a 3 bp deletion in exonmore » 17 and a 10 bp deletion in exon 44, originally detected in the genomic DNA from two unrelated NF1 patients, have been confirmed at the RNA level. The combination of this strategy with other established techniques such as SSCP, chemical cleavage of mismatch, protein truncation test (PTT) and quantitative PCR should greatly facilitate mutation and expression analyses in the NF1 gene.« less" @default.
- W207865295 created "2016-06-24" @default.
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- W207865295 date "1994-09-01" @default.
- W207865295 modified "2023-09-24" @default.
- W207865295 title "RT-PCR amplification of the complete NF1 coding sequence" @default.
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