title: Mutations in exon 7 of the GTP-binding protein Gs alpha were not a common cause of pseudohypoparathyroidism with Albright's hereditary osteodystrophy in Japanese.
abstract: The identification of unique point mutations in patients with pseudohypoparathyroidism (PHP) with Albright's hereditary osteodystrophy (AHO) in different ethnic backgrounds has proved that defects within the Gs alpha gene account for Gs alpha deficiency in those patients. To search a mutation hot spot of the Gs alpha gene in Japanese patients, we have screened exons 2-13 of the Gs alpha gene for mutations in three unrelated Japanese PHP patients with AHO. We could find no abnormalities by denaturing gradient gel electrophoresis and no mutations of sequencing of exon 7 in these subjects. This suggests that mutations in exon 7 of the Gs alpha gene may not be a common cause of PHP with AHO in Japanese.
authors.affiliation: Department of Clinical Laboratory Medicine, Kochi Medical School, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Takeda
authors.forename: M
authors.initials: M
authors.lastname: Yokoyama
authors.forename: K
authors.initials: K
authors.lastname: Hashimoto
authors.forename: Y
authors.initials: Y
authors.lastname: Hiromatsu
authors.forename: H
authors.initials: H
authors.lastname: Yamanaka
authors.forename: T
authors.initials: T
authors.lastname: Shimizu
authors.forename: M
authors.initials: M
authors.lastname: Sasaki
mesh_terms: D000328:Adult; D005091:Exons; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011547:Pseudohypoparathyroidism / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D019205:GTP-Binding Protein alpha Subunits, Gs