© 1992 Oxford University Press
OTHER |
Two hot spots of recombination in the DMD gene correlate with the deletion prone regions
CNRS-LGME and INSLHM U184, Institut de Chimie Biologique, Faculté de Médecine 67085 Strasbourg, France 1Institute for Molecular Genetics and Howard Hughes Medical Institute, Baylor College of Medicine Houston, TX, USA
* To whom correspondence should be addressed
Received July 21, 1992; Revised September 9, 1992; Accepted September 9, 1992
Genetic mapping has indicated that meiotic recombination occurs about 4 time more frequently in the dystrophin gene than expected on the basis of its length. To detect where recombinations occur within the gene, we have studied the CEPH families panel using highly polymorphic microsatellite markers located at the ends of the gene or flanking the major deletion hot spot in intron 44. We found a major hot spot of recombination between markers STR44 and STR501, i.e., between exons 44 and 51. Within this hot spot, a peak of recombination was located in the large intron 44. A second minor recombination prone region was found between DXS 206, (XJ, in the large intron 7) and the 5' end of the DMD gene. The distribution of the recombination events in the gene of healthy individuals was very similar to that of deletion breakpoints in DMD/BMD patients, suggesting that the two phenomenon may share a common mechanism. These results should also improve efficiency and accuracy of linkage analysis applied to carrier detection and prenatal diagnosis. In particular, if markers located at the very 3' end of the gene are not informative, the highly polymorphic ones located between exons 50 and 60 can be used instead of presently available extragenic markers, with a very low risk of diagnostic error due to recombination.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  A. Carsana, G. Frisso, M. R. Tremolaterra, E. Ricci, D. De Rasmo, and F. Salvatore A Larger Spectrum of Intragenic Short Tandem Repeats Improves Linkage Analysis and Localization of Intragenic Recombination Detection in the Dystrophin Gene: An Analysis of 93 Families from Southern Italy J. Mol. Diagn., February 1, 2007; 9(1): 64 - 69. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Sironi, U. Pozzoli, G. P. Comi, S. Riva, A. Bordoni, N. Bresolin, and D. K. Nag A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast FASEB J, September 1, 2006; 20(11): 1910 - 1912. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Holloway, V. E. Lawson, and A. J. Jeffreys Allelic recombination and de novo deletions in sperm in the human {beta}-globin gene region Hum. Mol. Genet., April 1, 2006; 15(7): 1099 - 1111. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. J. Yeadon, F. J. Bowring, and D. E. A. Catcheside Alleles of the Hotspot cog Are Codominant in Effect on Recombination in the his-3 Region of Neurospora Genetics, July 1, 2004; 167(3): 1143 - 1153. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Abicht, R. Stucka, C. Schmidt, A. Briguet, S. Hopfner, I.-H. Song, D. Pongratz, W. Muller-Felber, M. A. Ruegg, and H. Lochmuller A newly identified chromosomal microdeletion and an N-box mutation of the AChR{epsilon} gene cause a congenital myasthenic syndrome Brain, May 1, 2002; 125(5): 1005 - 1013. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. A. Schneider, T. E. A. Peto, R. A. Boone, A. J. Boyce, and J. B. Clegg Direct measurement of the male recombination fraction in the human {beta}-globin hot spot Hum. Mol. Genet., February 1, 2002; 11(3): 207 - 215. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. A. Payseur and M. W. Nachman Microsatellite Variation and Recombination Rate in the Human Genome Genetics, November 1, 2000; 156(3): 1285 - 1298. [Abstract] [Full Text]
|
|
|
|
|
|
M. W. Nachman and S. L. Crowell Contrasting Evolutionary Histories of Two Introns of the Duchenne Muscular Dystrophy Gene, Dmd, in Humans Genetics, August 1, 2000; 155(4): 1855 - 1864. [Abstract] [Full Text]
|
|
|
|
|
|
R. M. Badge, J. Yardley, A. J. Jeffreys, and J. A. L. Armour Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination Hum. Mol. Genet., May 1, 2000; 9(8): 1239 - 1244. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. J. Jeffreys, A. Ritchie, and R. Neumann High resolution analysis of haplotype diversity and meiotic crossover in the human TAP2 recombination hotspot Hum. Mol. Genet., March 22, 2000; 9(5): 725 - 733. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. A. Smith, P. J. Ho, J. B. Clegg, J. R. Kidd, and S. L. Thein Recombination Breakpoints in the Human beta -Globin Gene Cluster Blood, December 1, 1998; 92(11): 4415 - 4421. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. W. Nachman, V. L. Bauer, S. L. Crowell, and C. F. Aquadro DNA Variability and Recombination Rates at X-Linked Loci in Humans Genetics, November 1, 1998; 150(3): 1133 - 1141. [Abstract] [Full Text]
|
|
|
|
 |
|
 E. P. Hoffman and J. Wang Duchenne-Becker Muscular Dystrophy and the Nondystrophic Myotonias: Paradigms for Loss of Function and Change of Function of Gene Products Arch Neurol, November 1, 1993; 50(11): 1227 - 1237. [Abstract] [PDF]
|
|