Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site

G. J. Riggins, S. L. Sherman, B. A. Oostra, J. S. Sutcliffe, D. Feitell, D. L. Nelson, B. A. Van Oost, A. P.T. Smits, F. J. Ramos, E. Pfendner, D. P.A. Kuhl, C. T. Caskey, S. T. Warren

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53 Scopus citations


Fragile X [fra(X)] syndrome is a frequently encountered form of mental retardation and is inherited as an X-linked semi-dominant trait with reduced penetrance. We report here the characterization of a highly polymorphic dinucleotide repeat, DXS 548, which is approximately 150 kb proximal to the fra(X) site and the associated FMR-1 gene. DXS 548 is tightly linked to the fra(X) syndrome locus (FRAXA) without recombination (LOD = 9.07 with q of 0) in selected families with crossovers between FRAXA and very closely linked flanking markers. This dinucleotide repeat could be useful in determining the parental origin of a new fra(X) mutations and evaluating the role of FMR-1 in X-linked non-specific mental retardation.

Original languageEnglish (US)
Pages (from-to)237-243
Number of pages7
JournalAmerican journal of medical genetics
Issue number1-2
StatePublished - 1992
Externally publishedYes


  • Fragile X
  • X-linked mental retardation
  • dinucleotide repeat
  • linkage

ASJC Scopus subject areas

  • Genetics(clinical)


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