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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.

The X linked form of Kallmann syndrome ( KAL) and X linked ocular albinism ( OA1) have both been mapped to Xp22. 3. We have used a dinucleotide repeat polymorphism at the Kallmann locus to type 17 X linked ocular albinism families which had previously been typed for the Xg blood group ( XG) and the DNA markers DXS237 (GMGX9), DXS143 (dic56), and DXS85 (782). Close linkage was found between KAL and OA1 with a maximum lod score (Zmax) of 30.14 at a recombination fraction (theta max) of 0.06 (confidence interval for theta: 0.03-0.10). KAL was also closely linked to DXS237 (Zmax = 15.32; theta max = 0.05; CI 0.02-0.12) and DXS143 (Zmax = 14.57; theta max = 0.05; CI 0.02-0.13). There was looser linkage to the Xg blood group ( XG) and to DXS85 (782). Multipoint linkage analysis gave the map: Xpter-XG-0.13-DXS237-0.025-KAL-0.025-DXS143-0.01 5-OA1-0.09-DXS85-Xcen. Placement of OA1 proximal to DXS143 was supported by odds of 2300:1 compared to other orders. This confirms our previous localisation of OA1 and improves the genetic mapping of both disease loci.[1]

References

  1. Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. Zhang, Y., McMahon, R., Charles, S.J., Green, J.S., Moore, A.T., Barton, D.E., Yates, J.R. J. Med. Genet. (1993) [Pubmed]
 
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