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A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome

โœ Scribed by N. T. Bech-Hansen; L. L. Field; A. M. Schramm; M. Reedyk; I. W. Craig; N. J. Fraser; W. G. Pearce


Book ID
104658874
Publisher
Springer
Year
1990
Tongue
English
Weight
280 KB
Volume
84
Category
Article
ISSN
0340-6717

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โœฆ Synopsis


Linkage between X-linked congenital stationary night blindness (CSNB1) and seven markers on the X chromosome was investigated in a large four-generation Albertan kindred. We detected significant linkage between the CSNB1 locus and the locus DXS255 (maximum lod score = 6.73 at a recombination fraction of 6%; confidence interval of 1% to 18%), which anchors the CSNB1 locus to the proximal region near p11.22 on the short arm of the X chromosome.


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X-linked retinitis pigmentosa: linkage w
โœ Ursula Friedrich; Mette Warburg; Peter Wieacker; Thomas F. Wienker; Andreas Gal; ๐Ÿ“‚ Article ๐Ÿ“… 1985 ๐Ÿ› Springer ๐ŸŒ English โš– 543 KB

A large Danish pedigree segregating for X-linked retinitis pigmentosa (RPX) (Warburg and Simonsen 1968) was restudied for linkage analysis. Using two markers, i.e. the DNA base sequence polymorphism presented by the probe L1.28 defining the chromosomal segment DXS7, and the C-banding heteromorphism