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. 1992;43(1-2):237-43.
doi: 10.1002/ajmg.1320430138.

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

G J Riggins  1 , S L Sherman, B A Oostra, J S Sutcliffe, D Feitell, D L Nelson, B A van Oost, A P Smits, F J Ramos, E Pfendner, et al.
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Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

G J Riggins et al. Am J Med Genet. 1992.

Abstract

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.

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