A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome
โ 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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โฆ 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.
๐ SIMILAR VOLUMES
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