title: [Linkage analysis and mutation detection of GRIA3 in Smith--Fineman--Myers syndrome].
abstract: To determine the role of GRIA3 in the etiology of Smith--Fineman--Myers syndrome (SFMS), polymorphic short tandem repeats within GRIA3 gene were genotyped by PCR and denaturing polyacrylamide gel electrophoresis to test linkage between GRIA3 and the gene responsible for SFMS. The open reading frame of GRIA3 was detected for mutation by PCR amplification and direct sequencing in affected and normal males from SFMS family. One of the two short tandem repeats was informative in SFMS family. Tight linkage between SFMS locus and GRIA3 gene was established by STR3 within GRIA3 gene. No disease--causing mutation was found within the open reading frame of GRIA3 gene. The disease in SFMS family from Shandong (China) is not caused by the mutation within open reading frame of GRIA3 gene.
authors.affiliation: Department of Medical Genetics, Shandong University, School of Medicine, Jinan 250012, China.
authors.forename: Q J
authors.initials: QJ
authors.lastname: Liu
authors.forename: Y Q
authors.initials: YQ
authors.lastname: Gong
authors.forename: B X
authors.initials: BX
authors.lastname: Chen
authors.forename: C H
authors.initials: CH
authors.lastname: Guo
authors.forename: J X
authors.initials: JX
authors.lastname: Li
authors.forename: Y S
authors.initials: YS
authors.lastname: Guo
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D018091:Receptors, AMPA; D017470:Receptors, Glutamate / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
chemical_list: D018091:Receptors, AMPA; D017470:Receptors, Glutamate; C104723:glutamate receptor ionotropic, AMPA 3