To explore the detection of GNAS1 gene mutation from peripheral blood and non-involved bone marrow in patients with fibrous dysplasia of bone(FD). Both peripheral blood and non-involved bone marrow collected from six FD patients were used for genetic diagnosis by next generation sequencing and direct sequencing respectively. Two patients were found to have common gene mutation(positive) by next generation sequencing, accounting for 33.3% of total six people: p. R201H(CGT>CAT) was detected in both peripheral blood and bone marrow of patient No.3, and p. R201C(CGT>TGT) was detected in both tissues of patient No.6. While direct sequencing only found p. R201H(CGT>CAT) mutation in peripheral blood and bone marrow of patient No.3. Detection of GNAS1 gene mutation may contribute to the diagnosis of FD. Hot spot mutations of GNAS1 are present in peripheral blood and non-involved bone marrow samples from some Chinese FD patients, but the diagnostic value and sensitivity of GNAS1 gene mutation in non-involved tissues of FD patients is low by next generation sequencing or direct sequencing. (Chin J Endocrinol Metab, 2017, 33: 502-505)

Fibrous dysplasia of bone; Genetic diagnosis