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- Title
Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family.
- Authors
Baorong Zhang; Kun Xia; Meiping Ding; Desheng Liang; Zhirong Liu; Qian Pan; Zhengmao Hu; Ling-qian Wu; Fang Cai; Jiahui Xia
- 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. TheSLC9A6andFGF13genes in this region, were selected and screened for mutation in this family, but no mutation was detected.
- Subjects
NYSTAGMUS; EYE movement disorders; OCCUPATIONAL diseases; GENETIC disorders; GENETIC mutation; HUMAN genetics
- Publication
Human Genetics, 2005, Vol 116, Issue 1/2, p128
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s00439-004-1188-5