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Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.

Publication ,  Journal Article
Shashi, V; Golden, WL; Allinson, PS; Blanton, SH; von Kap-Herr, C; Kelly, TE
Published in: Am J Hum Genet
June 1996

It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown that telomeres, rather than centromeres, lead in chromosome movement just prior to meiosis and may be involved in promoting recombination. We studied by cytogenetic analysis and DNA polymorphisms the nature of meiotic recombination in a three-generation family with a large pericentric X chromosome inversion, inv(X)(p21.1q26), in which Duchenne muscular dystrophy (DMD) was cosegregating with the inversion. On DNA analysis there was no evidence of meiotic recombination between the inverted and normal X chromosomes in the inverted segment. Recombination was seen at the telomeric regions, Xp22 and Xq27-28. No deletion or point mutation was found on analysis of the DMD gene. On the basis of the FISH results, we believe that the X inversion is the mutation responsible for DMD in this family. Our results indicate that (1) pericentric X chromosome inversions result in reduction of recombination between the normal and inverted X chromosomes; (2) meiotic X chromosome pairing in these individuals is likely initiated at the telomeres; and (3) in this family DMD is caused by the pericentric inversion.

Duke Scholars

Published In

Am J Hum Genet

ISSN

0002-9297

Publication Date

June 1996

Volume

58

Issue

6

Start / End Page

1231 / 1238

Location

United States

Related Subject Headings

  • X Chromosome
  • Repetitive Sequences, Nucleic Acid
  • Recombination, Genetic
  • Polymorphism, Genetic
  • Polymerase Chain Reaction
  • Pedigree
  • Muscular Dystrophies
  • Male
  • Lymphocytes
  • Lod Score
 

Citation

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Shashi, V., Golden, W. L., Allinson, P. S., Blanton, S. H., von Kap-Herr, C., & Kelly, T. E. (1996). Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. Am J Hum Genet, 58(6), 1231–1238.
Shashi, V., W. L. Golden, P. S. Allinson, S. H. Blanton, C. von Kap-Herr, and T. E. Kelly. “Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.Am J Hum Genet 58, no. 6 (June 1996): 1231–38.
Shashi V, Golden WL, Allinson PS, Blanton SH, von Kap-Herr C, Kelly TE. Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. Am J Hum Genet. 1996 Jun;58(6):1231–8.
Shashi V, Golden WL, Allinson PS, Blanton SH, von Kap-Herr C, Kelly TE. Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. Am J Hum Genet. 1996 Jun;58(6):1231–1238.
Journal cover image

Published In

Am J Hum Genet

ISSN

0002-9297

Publication Date

June 1996

Volume

58

Issue

6

Start / End Page

1231 / 1238

Location

United States

Related Subject Headings

  • X Chromosome
  • Repetitive Sequences, Nucleic Acid
  • Recombination, Genetic
  • Polymorphism, Genetic
  • Polymerase Chain Reaction
  • Pedigree
  • Muscular Dystrophies
  • Male
  • Lymphocytes
  • Lod Score