Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.
other · Level V
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- Record sourced from PubMed, PMID 2035525.
- Also identified by PMC identifier 1683096.
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Abstract
We describe two highly polymorphic microsatellite AC repeat sequences, VK23AC and VK14AC, which are closely linked to the fragile X at Xq27.3. Both VK23AC (DXS297) and VK14AC (DXS292) are proximal to the fragile site. Two-point linkage analysis in 31 fragile X families gave (a) a recombination frequency of 1% (range 0.00%-4%) with a maximum lod score of 32.04 for DXS297 and (b) a recombination frequency of 7% (range of 3%-15%) with a maximum lod score of 12.87 for DXS292. Both of these polymorphisms are applicable to diagnosis by linkage in families with fragile X syndrome. A multipoint linkage map of genetic markers at Xq27.3 was constructed from genotyping these polymorphisms in the CEPH pedigrees. The DXS292 marker is in the DXS98-DXS297 interval and in 3 cM proximal to DXS297.
Medical subject headings
- DNA
- DNA, Satellite
- Fragile X Syndrome
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid