Mutations of the G sup s. alpha. -subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis

Journal Article · Thu Nov 01 04:00:00 EST 1990 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.87.21.8287· OSTI ID:5603408

Weinstein, L S; Friedman, E; Collins, R M; Spiegel, A M; Gejman, P V; Kadowaki, Takashi; Gershon, E S ^[1]

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1. National Inst. of Health, Bethesda, MD (United States)

Affected members of most kindreds with Albright hereditary osteodystrophy have a partial deficiency of functional G{sub s}, the guanine nucleotide-binding protein that stimulates adenylyl cyclase. By use of the polymerase chain reaction to amplify genomic fragments with the attachment of a high-melting G+C-rich region (GC clamp) and analysis of these fragments by denaturing gradient gel electrophoresis, heterozygous mutations in the G{sub s} {alpha}-subunit at the donor splice junction of intron 10 and a coding frameshift created by a single base deletion within exon 10. The findings illustrate the heterogeneity of genetic defects in Albright hereditary osteodystrophy and the usefulness of the polymerase chain reaction-denaturing gradient gel electrophoresis method to search rapidly for mutations in a large candidate gene.

• OSTI ID: 5603408
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 87:21; ISSN 0027-8424; ISSN PNASA
• Country of Publication: United States
• Language: English

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59 BASIC BIOLOGICAL SCIENCES
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
DAYS LIVING RADIOISOTOPES
DISEASES
DNA POLYMERASES
DNA SEQUENCING
ELECTROPHORESIS
ENZYMES
GENE AMPLIFICATION
GENE MUTATIONS
GENES
HEREDITARY DISEASES
ISOTOPES
LIGHT NUCLEI
MUTATIONS
NUCLEI
NUCLEOTIDYLTRANSFERASES
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
PATHOGENESIS
PATIENTS
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
PHOSPHORUS-GROUP TRANSFERASES
POLYMERASES
PROTEINS
RADIOISOTOPES
STRUCTURAL CHEMICAL ANALYSIS
TRANSFERASES