McCune-Albright综合征多病变部位基因诊断

Genetical diagnosis of multiple affected tissues in a patient with McCune-Albrtght syndrome

目的研究1例McCune-Albright综合征(MAS)患者不同病变组织的G蛋白α亚单位(Gsα)基因突变情况。方法收集1例MAS患者的外周血、病变骨组织、皮肤及胸膜组织样本,分别提取基因组DNA并对目的片段进行PCR扩增和直接测序。结果该患者外周血和骨组织中存在Gsα基因R201C突变,而其皮肤和胸膜组织中未检出突变。结论经基因诊断证实该例临床确诊的MAS患者的Gsα基因存在经典的R201C突变,且累及多种组织。突变发生在胚胎形成早期,临床表现可呈现多样性。

Objective To identify the gene mutation of G protein α-subunit （Gsα） 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 Gsα 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 Gsα gene and multiple tissues are affected, The mutation occurs early in embryogenesis and clinical features can be polymorphic.