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.
Original language | English (US) |
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Pages (from-to) | 237-243 |
Number of pages | 7 |
Journal | American journal of medical genetics |
Volume | 43 |
Issue number | 1-2 |
DOIs | |
State | Published - 1992 |
Externally published | Yes |
Keywords
- Fragile X
- X-linked mental retardation
- dinucleotide repeat
- linkage
ASJC Scopus subject areas
- Genetics(clinical)