Refinement of the chromosomal position of the X linked juvenile retinoschisis gene

Linkage analysis was carried out in seven X linked juvenile retinoschisis (XLRS) families using four DNA probes and four CA repeat polymorphisms from the Xp22 region. Close linkage was observed between the XLRS locus and DXS207 (theta max = 0.04, Zmax = 3.71), DXS999 (theta max = 0.00, Zmax = 4.59),...

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Bibliographic Details
Published in:Journal of medical genetics 1994-12, Vol.31 (12), p.972-975
Main Authors: Bergen, A A, ten Brink, J B, Bleeker-Wagemakers, L M, van Schooneveld, M J
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Mapping
Female
Genetic Linkage
Humans
Male
Medical sciences
Ophthalmology
Pedigree
Recombination, Genetic
Retinal Degeneration - genetics
Retinopathies
Vitreous Body
X Chromosome
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Summary:Linkage analysis was carried out in seven X linked juvenile retinoschisis (XLRS) families using four DNA probes and four CA repeat polymorphisms from the Xp22 region. Close linkage was observed between the XLRS locus and DXS207 (theta max = 0.04, Zmax = 3.71), DXS999 (theta max = 0.00, Zmax = 4.59), DXS365 (theta max = 0.07, Zmax = 2.22), and DXS451 (theta max = 0.05, Zmax = 3.26). The analysis of recombination breakpoints and multipoint linkage analysis suggests the order Xpter-DXS16-(DXS43, DXS207)-RS-DXS365-(DXS451, DXS41)-Xcen, thereby refining the position of the XLRS locus to an interval of approximately 3-4 cM. These results improve the feasibility of diagnosis in XLRS considerably, since carriers of this disease cannot be identified clinically.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.31.12.972