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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1991 Jun;48(6):1051–1057.

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.

R I Richards 1, Y Shen 1, K Holman 1, H Kozman 1, V J Hyland 1, J C Mulley 1, G R Sutherland 1
PMCID: PMC1683096  PMID: 2035525

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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