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

V. Shashi, W. L. Golden, P. S. Allinson, Susan H Blanton, C. Von Kap-Herr, T. E. Kelly

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)1231-1238
Number of pages8
JournalAmerican Journal of Human Genetics
Volume58
Issue number6
StatePublished - May 29 1996
Externally publishedYes

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Duchenne Muscular Dystrophy
X Chromosome
Genetic Recombination
Telomere
Meiosis
Chromosome Pairing
Centromere
Sequence Deletion
Cytogenetic Analysis
DNA
Point Mutation
Chromosomes
Yeasts
Mutation
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. / Shashi, V.; Golden, W. L.; Allinson, P. S.; Blanton, Susan H; Von Kap-Herr, C.; Kelly, T. E.

In: American Journal of Human Genetics, Vol. 58, No. 6, 29.05.1996, p. 1231-1238.

Research output: Contribution to journalArticle

Shashi, V. ; Golden, W. L. ; Allinson, P. S. ; Blanton, Susan H ; Von Kap-Herr, C. ; Kelly, T. E. / Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. In: American Journal of Human Genetics. 1996 ; Vol. 58, No. 6. pp. 1231-1238.
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