title: The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.
abstract: We report the study of five independent X-linked hydrocephalus (HSAS1) families with polymorphic DNA markers of the Xq28 region. A total of 58 individuals, including 7 living affected males and 22 obligate carriers, have been studied. Maximum lod score was 7.21 at theta = 2.40% for DXS52 (St14-1). A single recombination event was observed between this marker and the HSAS1 locus. Other markers studied were DXS296 (Z = 2.02 at theta = 2.5%), DXS304 (Z = 4.37 at theta = 7.8%), DXS74 (Z = 3.50 at theta = 0%), DXS15 (Z = 1.96 at theta = 5.7%), DXS134 (Z = 3.31 at theta = 0%), and F8C (Z = 5.79 at theta = 0%). These data confirm the localization of the HSAS1 gene to Xq28 and provide evidence for genetic homogeneity of this syndrome. In addition, examination of two obligate recombinant meioses along with multipoint linkage analysis supports the distal localization of the HSAS1 locus with respect to the DXS52 cluster. These observations are of potential interest for future studies aimed at HSAS1 gene characterization.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-12, Hôpital des Enfants-Malades, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: A
authors.initials: A
authors.lastname: Pelet
authors.forename: G
authors.initials: G
authors.lastname: Royer
authors.forename: O
authors.initials: O
authors.lastname: Delrieu
authors.forename: F
authors.initials: F
authors.lastname: Serville
authors.forename: B
authors.initials: B
authors.lastname: le Marec
authors.forename: A
authors.initials: A
authors.lastname: Gruensteudel
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
authors.forename: M L
authors.initials: ML
authors.lastname: Briard
authors.forename: C
authors.initials: C
authors.lastname: Dubay
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic; D014960:X Chromosome
chemical_list: D005819:Genetic Markers