Abstract
Congenital motor nystagmus (CMN), a subtype of nystagmus, may reduce vision or be associated with other, more serious, conditions that limit vision. The genetic basis for CMN is still unknown. To identify a locus for CMN, genotyping and linkage analysis were performed in 22 individuals from a Chinese family with X-linked CMN using markers from X chromosome. The maximum LOD score obtained for microsatellite maker DXS1192 linked the CMN locus in this family to Xq. By haplotype construction the locus for CMN was finally localized to an approximately 4.4-cM region at chromosome Xq26.3-q27.1. The SLC9A6 and FGF13 genes in this region, were selected and screened for mutation in this family, but no mutation was detected.
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Acknowledgements
The authors would like to thank the families for their participation in our study, and Mrs. JinYu for assistance in DNA preparation. This work is supported by a Director Grant of the National Laboratory of Medical Genetics, Zhejiang Provincal Natural Science Foundation (M303800), a National overseas student foundation grant, and State “863” program (2002BA711A07-08) and “973” program (2001CB510302) of China.
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B. Zhang and K. Xia contribute to this work equally
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Zhang, B., Xia, K., Ding, M. et al. Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family. Hum Genet 116, 128–131 (2005). https://doi.org/10.1007/s00439-004-1188-5
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DOI: https://doi.org/10.1007/s00439-004-1188-5