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Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

1993; BMJ; Volume: 30; Issue: 3 Linguagem: Inglês

10.1136/jmg.30.3.214

1468-6244

Monique Jouet, Eva L. Feldman, John R.W. Yates, Dian Donnai, J. Paterson, D C Siggers, Susan Kenwrick,

Hemophilia Treatment and Research

The most common inherited form of hydrocephalus, X linked hydrocephalus (HSAS), is characterised by mental retardation, adducted thumbs, and spastic paraplegia. Genetic analysis has mapped the locus for HSAS to subchromosomal band Xq28 within a region of approximately 2 megabases of DNA. In order to refine the location of the disease gene we have conducted genetic linkage analysis with Xq28 marker loci in four additional HSAS families. A lod score of 4.26 with polymorphic marker DXS52 (St14) confirms the linkage of HSAS to Xq28. Identification of a recombination event between the HSAS gene and Xq28 loci F8C and DXS605 (2-19) reduces the size of the interval likely to contain the disease locus to about 1.5 megabases, the distance between DXS605 and DXS52. The locus for neural cell adhesion molecule, L1CAM, maps within this interval and therefore represents a candidate gene for HSAS.