纤维母细胞生长因子受体3(FGFR3)的C749G(Pro250Arg)基因突变,已在不同类型的颅缝线早闭病人中被发现。该研究的目的是找出此种基因突变在有明显外貌症状、但无综合征候的颅冠状缝早闭病例中出现的比例。 作者对前来专家中心就医的、尚未作综合性诊断的26名颅冠状缝早闭R病人进行了调查研究。患者的整组DNA通过PCR进行分析,并由限制性酶消化,来鉴别FGFR3的C749G基因突变。另外, Mutations in the C749G (Pro250Arg) gene of fibroblast growth factor receptor 3 (FGFR3) have been found in different types of cranial suture early-closure patients. The aim of this study was to find out the percentage of mutations in this type of cranial-stenosed and early-closed cases with significant appearance symptoms but without syndromes. The authors conducted a study of 26 cranial-corneal suture-closed R patients who did not make a comprehensive diagnosis and sought medical treatment at an expert center. The patient’s entire set of DNA was analyzed by PCR and digested with restriction enzymes to identify the C749G gene mutation in FGFR3. In addition,