Mutational Analysis of Gsalpha Protein in Fibrous dysplasia of the Bone.
10.3803/jkes.2005.20.2.142
- Author:
Sang Youl RHEE
1
;
Jeong Taek WOO
;
Gwanpyo KOH
;
Seungjoon OH
;
Sung Woon KIM
;
Jin Woo KIM
;
Young Seol KIM
;
Yong Koo PARK
Author Information
1. Department of Endocrinology and Metabolism, School of Medicine, Kyung Hee University, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Fibrous dysplasia;
McCune-Albright syndrome;
GNAS1;
GTP-Binding Protein alpha Subunits;
Gs
- MeSH:
Bone and Bones;
Clone Cells;
Cloning, Organism;
Congenital Abnormalities;
DNA;
Exons;
Extremities;
Fibrous Dysplasia, Polyostotic;
Fractures, Spontaneous;
GTP-Binding Protein alpha Subunits;
Humans;
Introns;
Paraffin;
Plasmids;
Point Mutation;
Polymerase Chain Reaction;
Sequence Analysis, DNA;
Signal Transduction
- From:Journal of Korean Society of Endocrinology
2005;20(2):142-147
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
BACKGROUND: Fibrous dysplasia of the bone(FD) is a benign fibrous bone lesion which usually involves the long bones of the extremities. FD may be asymptomatic, but often leads to bone deformity and pathological fracture. The disease is caused by a somatic mutation in the Gsalpha protein, which is responsible for intracellular signal transduction. METHODS: Mutations in the GNAS1 gene, which codes for Gsalpha protein, was investigated in 34 patients with monostotic and polyostotic FD and McCune-Albright syndrome. DNA was extracted from formalin-fixed, paraffin embedded bone tissues, and exons 8 and 9 of the GNAS1 gene amplified using a polymerase chain reaction(PCR). Subsequently, plasmid cloning and DNA sequencing analysis were performed. RESULTS: The PCR was successfully performed in 5 patients with monostotic FD. However, the sequencing analysis failed to identify any significant point mutations in exons 8 or 9 of GNAS1. Nevertheless, 3 point mutations were observed in the intron of the GNAS1 gene in 2 samples. CONCLUSION: In addition to the previously known somatic mutations of the GNAS1 gene, this study suggests that fibrous dysplasia of the bone might be associated with another point mutations of the GNAS1 gene
