title: The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.
abstract: We undertook linkage analysis in four large North Carolina kindreds with X-linked hypophosphatemic rickets (HYP) using a newly defined polymorphic probe, derived from the 5' untranslated portion of the human glycine receptor (GLR). Two-point linkage analysis established linkage between GLR and HYP [Z(theta) = 7.91 at theta = 0.07] and confirmed linkage between HYP and DXS41 [Z(theta) = 8.31 at theta = 0.06] and DXS43 [Z(theta) = 5.94 at theta = 0.05]. Additionally, we found GLR tightly linked to DXS43 [Z(theta) = 5.40 at theta = 0.0]. Multipoint analysis indicated that GLR is on the telomeric side of HYP with a map order of Xpcen-DXS41-HYP-(GLR/DSX43).
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
authors.forename: M J
authors.initials: MJ
authors.lastname: Econs
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: H
authors.initials: H
authors.lastname: Betz
authors.forename: R J
authors.initials: RJ
authors.lastname: Bartlett
authors.forename: M C
authors.initials: MC
authors.lastname: Speer
authors.forename: M K
authors.initials: MK
authors.lastname: Drezner
mesh_terms: D005260:Female; D005796:Genes; D008040:Genetic Linkage; D005819:Genetic Markers; D005998:Glycine; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics*; D008126:Lod Score; D008297:Male; D018009:Receptors, Glycine; D017981:Receptors, Neurotransmitter / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D018009:Receptors, Glycine; D017981:Receptors, Neurotransmitter; D005998:Glycine