Abstract
The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17 and various DNA markers have been identified in this region. We have performed a genetic analysis using an anonymous DNA marker, HHH202 (D17S33), tightly linked to the NF1 gene in seven NF1 Italian families. Only one family was fully informative for the HHH202/RsaI polymorphism. In this family this marker can be used for presymptomatic and prenatal diagnosis. However, it is necessary to use additional flanking markers in order to increase informativeness and to obtain better diagnostic accuracy.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Barker D, Wright E, Nguyen K, Cannon I, Fain P, Goldgar D, Bishop DT, Carey J, Baty B, Kivlin J, Willard H, Waye JS, Greig G, Leinwand L, Nakamura Y, O'Connell P, Leppert M, Lalouel JM, White R, Skolnick M (1987) Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236: 1100–1102
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
Diehl SR, Boehnke M, Erickson P, Ploughman LM, Seiler KA, Lieberman JL, Clarke HB, Bruce MA, Schorry EK, Pericak-Vance M, O'Connell P, Collins FS (1989) A refined genetic map of the region of chromosome 17 surrounding the von Reck-linghausen neurofibromatosis (NF1) gene. Am J Hum Genet 44: 33–37
Feinberg AP, Vogelstein B (1983) A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132: 6–13
Ledbetter DH, Rich DC, O'Connell P, Leppert M, Carey JC (1989) Precise localization of NF1 to 17q11.2 by balanced translocation. Am J Hum Genet 44: 20–24
Maniatis T, Fritsch EF, Sambrook J (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory. Cold Spring Harbor, NY
O'Connell P, Leach RJ, Ledbetter DH, Cawthon RM, Culver M, Eldridge JR, Frej AK, Holm TR, Wolff E, Thayer MJ, Schafer AJ, Fountain JW, Wallace MR, Collins FS, Skolnick MH, Rich DC, Fournier REK, Baty BJ, Carey JC, Leppert MF, Lathrop GM, Lalouel JM, Withe R (1989) Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I. Am J Hum Genet 44: 51–57
Schmidt MA, Michels VV, Dewald GW (1987) Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2. Am J Med Genet 28: 771–777
Seizenger BR, Rouleau GA, Ozelius LJ, Lane AH, Faryniarz A, Chao MV, Huson S, Korf BR, Parry DM, Pericak-Vance MA, Collins FS, Hobbs WJ, Falcone BG, Iannazzi JA, Roy JC, St George-Hyslop PH, Tanzi RE, Bothwell MA, Upadhyaya M, Harper P, Goldstein AE, Hoover DL, Bader JL, Spence MA, Mulvihill JJ, Aylsworth AS, Vance JM, Rossenwasser GOD, Gaskell PC, Roses AD, Martuza RL, Breakefield XO, Gusella JF (1987) Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 49: 589–594
Stumpf DA (1987) Neurofibromatosis. NIH Consensus Development Conference Statement, vol 6, no 12
Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Brownstein BH, Collins FS (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249: 181–186
White R, Nakamura Y, O'Connell P, Leppert M, Lalouel JM, Barker D, Goldgar D, Skolnick M, Carey J, Wallis CE, Slater CP, Mathew C, Ponder B (1987) Tightly linked markers for the neurofibromatosis type 1 gene. Genomics 1: 364–367
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Vivarelli, R., Bartalini, G., Calistri, L. et al. Molecular study in von Recklinghausen neurofibromatosis (NF1). Child's Nerv Syst 7, 98–99 (1991). https://doi.org/10.1007/BF00247864
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00247864