Abstract
To compare the frequency and distribution of rearrangements in the dystrophin gene in Duchenne muscular dystrophy (DMD) between Japanese DMD patients and those in North America and Europe, Southern blot analyses of the dystrophin gene were carried out in 88 probands classified as DMD. Gene rearrangements were found in 61 (69%) subjects, and they were composed of partial gene deletions in 53 (60%) probands and partial duplications in 7 (8%) probands. A total deletion of the gene was found in 1 (1%) patient. Among 53 patients with deletions, 34 (64%) had breakpoints between introns 44 and 52 and 7 (13%) had breakpoints between introns 2 and 11. Both the frequency and the distribution of gene rearrangements found in this study were similar to those reported in North America and Europe. These data suggest that there are no ethnic or racial differences in the frequency and distribution of rearrangements thought to be caused by similar mechanisms in the dystrophin gene in all human racial groupings.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Arahata K, Beggs AH, Honda H, Ito S, Ishiura S, Tsukahara T, Ishiguro T, Eguchi C, Orimo S, Arikawa E, Kaido M, Nonaka I, Sugita H, Kunkel LM (1991) Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. J Neurol Sci 101:148–156
Asano J, Tomatsu S, Sukegawa K, Ikedo Y, Minami R, Iida M, Nishimura M, Nakagawa M, Ohshiro M, Orii T (1991) Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection. Clin Genet 39:419–424
Baumbach LL, Chamberlain JS, Ward PA, Farwell NJ, Caskey CT (1989) Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology 39:465–474
Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LAJ, Ginjaar HB, Wapenaar MC, van Paassen HMB, van Broeckhoven C, Pearson PL, van Ommen GJBn (1989) Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45:835–847
Emery AEH (1988) Duchenne muscular dystrophy, rev edn. Oxford University Press, Oxford
Engel AG, Banker BQ (1986) Myology: basic and clinical, vol 2. McGraw-Hill, New York
Gillard EF, Chamberlain JS, Murphy EG, Duff CL, Smith B, Burghes AHM, Thompson MW, Sutherland J, Oss I, Bodrug SE, Klamut HJ, Ray PN, Worton RG (1989) Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet 45:507–520
Haldane JBS (1935) The rate of spontaneous mutation of a human gene. J Genet 31:317–326
Hodgson S, Hart K, Abbs S, Heckmatt J, Rodillo E, Bobrow M, Dubowitz V (1989) Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. J Med Genet 26:682–693
Hu XY, Ray PN, Murphy EG, Thompson MW, Worton RG (1990) Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am J Hum Genet 46:682–695
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
Liechti-Gallati S, Koenig M, Kunkel LM, Frey D, Boltshauser E, Schneider V, Braga S, Moser H (1989) Molecular deletion patterns in Duchenne and Becker type muscular dystrophy. Hum Genet 81:343–348
Maniatis T, Fritsch EF, Sambrook J (eds) (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
Simard LR, Gingras F, Delvoye N, Vanasse M, Melançon SB, Labuda D (1992) Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec. Hum Genet 89:419–424
Soong BW, Tsai TF, Su CH, Kao KP, Hsiao KJ, Su TS (1991) DNA polymorphisms and deletion analysis of the DuchenneBecker muscular dystrophy gene in the Chinese. Am J Med Genet 38:593–600
Sugino S, Fujishita S, Kamimura N, Matsumoto T, Wapenaar MC, Deng HX, Shibuya N, Miike T, Niikawa N (1989) Moleculargenetic study of Duchenne and Becker muscular dystrophies: deletion analyses of 45 Japanese patients and segregation analyses in their families with RFLPs based on the data from normal Japanese females. Am J Med Genet 34:555–561
Ubagai T, Katayama S (1991) DNA analysis of Duchenne and Becker muscluar dystrophy using pERT87 genomic probes and dystrophin cDNA probes. Jinrui Idengaku Zasshi 36:211–227
Upadhyaya M, Smith RA, Thomas NST, Norman AM, Harper PS (1990) Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA. Clin Genet 37:456–462
Vainzof M, Pavanello RCM, Pavanello-Filho I, Rapaport D, Passos-Bueno MR, Zubrzycka-Gaarn EE, Bulman DE, Zatz M (1991) Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies. Am J Med Genet 39:38–41
Vitiello L, Mostacciuolo ML, Oliviero S, Schiavon F, Nicoletti L, Angelini C, Danieli GA (1992) Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients. J Med Genet 29:127–130
Yasuda N, Kondo K (1980) No sex difference in mutation rates of Duchenne muscular dystrophy. J Med Genet 17:106–111
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Imoto, N., Arinami, T., Hamano, K. et al. Topographic pattern of the rearrangement of the dystrophin gene in Japanese Duchenne muscular dystrophy. Hum Genet 92, 533–536 (1993). https://doi.org/10.1007/BF00420934
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00420934