Genetical diagnosis of multiple affected tissues in a patient with McCune-Albrtght syndrome / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12)1986.
Article
in Zh
| WPRIM
| ID: wpr-676452
Responsible library:
WPRO
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.
Full text:
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Index:
WPRIM
Type of study:
Diagnostic_studies
Language:
Zh
Journal:
Chinese Journal of Endocrinology and Metabolism
Year:
1986
Type:
Article