Abstract
A 300-bp EcoRV polymorphism, detected with P20 (DXS269) in intron 44 of the human dystrophin gene, is due to an insertion or deletion. To make this restriction fragment length polymorphism (RFLP) available for polymerase chain reaction (PCR) analysis, we sequenced both alleles of this polymorphism and synthesized primers flanking the mutation site. The origin of the mutation is a single Alu repeat insertion. The 300-bp polymorphism can now be successfully detected by PCR and provides an excellent tool to detect female carriers in this deletion prone region of the dystrophin gene.
Similar content being viewed by others
References
Blonden LAJ, Ginjaar HB, Wapenaar MC, Paassen HMB Van (1991) 242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread. Genomics 10:631–639
Dunnen JT Den, Grootscholten PM, Bakker ED, Broeckhoven C Van, Pearson PL, Ommen GJB Van (1989) Topography of the DMD gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45:835–847
Jurka J, Smith T (1988) A fundamental division in the Alu family of repeated sequences. Proc Natl Acad Sci USA 85:4775–4778
Jurka J, Walichiewicz J, Milosavljevic A (1992) Prototypic sequences for human repetitive DNA. J Mol Evol 35:286–291
Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Muller CR, Lindlof M, Kaariainen H, de la Chapelle A, Kiuru A, Savontaus ML, Gilgenkrantz H, Recan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Romeo G, Liechti-Gallati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wrogemann K, Blonden LAJ, van Paassen HMB, van Ommen GJB, Kunkel LM (1989) The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 45: 498–506
Mahadevan MS, Foitzik MA, Surh LC, Korneluk RG (1993) Characterization and Polymerase Chain Reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with Myotonic Dystrophy. Genomics 15:446–448
Ray PN, Beifall B, Duff C, Logan C, Kean V, Thompson MW, Sylvester JE, Gorski JL, Schmickel RD, Worton RG (1985) Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystroophy. Nature 318:672–675
Vidaud D, Vidaud M, Bahnak BR, Siguret V, Gispert Sanchez S, Laurian Y, Meyer D, Goossens M, Lavergne JM (1993) Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the Factor IX gene. Eur J Hum Genet 1:30–36
Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS (1991) A de novo Alu insertion results in neurofibromatosis type 1. Nature 353:864–866
Wapenaar MC, Kievits T, Hart KA, Abbs S, Blonden LAJ, Den Dunnen JT, Grootscholten PM, Bakker E, Verellen-Dumoulin C, Bobrow M, Ommen GJB van, Pearson PL (1988) A deletion hot spot in the duchenne muscular dystrophy gene. Genomics 2:101–108
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Blonden, L.A.J., Terwindt, G.M., Den Dunnen, J.T. et al. A polymorphic STS in intron 44 of the dystrophin gene. Hum Genet 93, 479–480 (1994). https://doi.org/10.1007/BF00201683
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00201683