PMID: 9192273Jun 1, 1997Paper

Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location

Journal of Medical Genetics
B S ShastryM L Tamayo

Abstract

Juvenile X linked retinoschisis (RS) is a bilateral vitreoretinal dystrophy that develops early in life. Previous linkage studies have localised the RS gene to Xp22.1-p22.3 between DXS207 and AFM 291Wf5, which represents a genetic distance of approximately 3.7 cM. In an effort to facilitate the eventual cloning of the RS gene, we have analysed a large Colombian family, using 10 microsatellite markers that have been mapped to the region Xp22.1-p22.3. A total of 93 members, including 19 affected and eight unaffected males, two affected females, and six obligate carrier females were analysed. Close linkage was observed between the disease locus and DXS999 (Zmax = 2.27, theta max = 0.05), DXS987 (Zmax = 2.61, theta max = 0.1), DXS443 (Zmax = 4.23, theta max = 0.1), and DXS274 (Zmax = 3.49, theta max = 0.05) markers. Recombination with the RS locus was found for all marker loci except DXS197, DXS43, and DXS1195. These results place the RS locus within an interval of approximately 2 cM between the flanking markers DXS1053 and DXS999, approximately 1.7 cM closer than the previously reported boundary. The results also further confirm the lack of genetic heterogeneity of RS.

References

Jun 15, 1988·American Journal of Ophthalmology·G B ArdenA C Bird
Apr 1, 1987·Archives of Ophthalmology·N S PeacheyM G Brigell
Jun 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·G M LathropJ Ott
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Dec 1, 1994·Journal of Medical Genetics·A A BergenM J van Schooneveld
Mar 1, 1996·Archives of Ophthalmology·N D GeorgeA T Moore
Mar 27, 1996·Biochemical and Biophysical Research Communications·B S ShastryM T Trese
Jun 1, 1961·American Journal of Ophthalmology·E P GIESER, H F FALLS

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Citations

Feb 19, 2000·Biochemical and Biophysical Research Communications·M HiraokaB S Shastry

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