Genetical diagnosis of multiple affected tissues in a patient with McCune-Albrtght syndrome
- VernacularTitle:McCune-Albright综合征多病变部位基因诊断
- Author:
Ji ZHOU
;
Li-Hao SUN
;
Bin CUI
;
Huai-Dong SONG
;
Xiao-Ying LI
;
Guang NING
;
Jian-Min LIU
- Publication Type:Journal Article
- Keywords:
McCune-Albright synd-rome;
Fibrous dysplasia;
polyostotic;
GTP-binding protein?subunit;
Gs;
Mutation
- From:
Chinese Journal of Endocrinology and Metabolism
1986;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify the gene mutation of G protein?-subunit (Gsct) in multiple affected tissues of a patient with McCune-Albright syndrome.Methods The peripheral blood,bone tissue,lesion skin and pleura samples of the patient were collected.Genomic DNA was isolated from these samples,and PCR and direct sequencing were performed.Results The peripheral blood and bone tissue of the patient showed a mutation R201C in Gs?gene.No mutation was detected in the skin and pleura samples of the patient.Conclusion The gene diagnosis confirms that the patient has a classical R201C mutation in Gs?gene and multiple tissues are affected.The mutation occurs early in embryogenesis and clinical features can be polymorphic.
