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A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level

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We describe here a new sequence variant occurring in the coding region of the neurofibromatosis (NF1) gene (exon 13). This exonic polymorphism can be directly investigated by simple restriction enzyme digestion of RT-PCR (reverse transcription-polymerase chain reaction) products, making it a powerful tool for examining allele-specific mRNA expression levels.

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  1. Cawthon RM, Weiss R, Xu G, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O'Connell P, White R (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62:193–201

  2. Hoffmeyer S, Assum G, Kaufmann D, Krone W (1994) Unequal expression of NF1 alleles. Nature Genet 6:331

  3. Legius E, Marchuk DA, Hall BK, Andersen LB, Wallace MR, Collins FS, Glover TW (1992) NR1-related locus on chromosome 15. Genomics 13:1316–1318

  4. Marchuk DA, Tavakkol R, Wallace MR, Brownstein BH, Taillon-Miller P, Fong CT, Legius E, Andersen LB, Glover TW, Collins FS (1992) A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. Genomics 13:672–680

  5. Suzuki H, Ozawa N, Taga C, Kano T, Hattori M, Sakaki Y (1994) Genomic analysis of a NF1-related pseudogene on human chromosome 21. Gene 147:277–280

  6. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, White R, O'Connell P (1990) Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187–192

  7. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Browstein BH, Collins FS (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249:181–186

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Régnier, V., Danglot, G., Nguyen, V. et al. A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level. Hum Genet 96, 131–132 (1995). https://doi.org/10.1007/BF00214202

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  • Internal Medicine
  • mRNA Expression
  • mRNA Level
  • Restriction Enzyme
  • Metabolic Disease