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目的 了解中国人软骨发育不全患者 (achondroplasia,ACH)的基因突变情况 ,建立一种快速简便的从分子水平鉴别 ACH及类似遗传性侏儒的方法。方法 对 2 1例 ACH患者及 6例疑似 ACH患者的干血滤纸片进行成纤维细胞生长因子受体 3(fibroblastgrowth factor receptor3,FGFR3)基因跨膜区特异性扩增 ,通过限性内切酶分析、单链构象多态和变性梯度凝胶电泳检测基因突变。结果 6例疑似ACH患者中 ,1例为 ACH,5例为假性软骨发育不全。2 2例 ACH患者中 ,2 1例发生了 FGFR3基因 1138位核苷酸G→ A的转换 ,1例发生了 1138位 G→C的颠换。结论 中国人 ACH患者的基因突变与 FGFR3基因 1138位核苷酸 G→A和 G→C的突变密切相关。该法是一种快速简便地从分子水平鉴别 ACH及类似遗传性侏儒的方法。
Objective To understand the gene mutation of achondroplasia (ACH) in Chinese and to establish a quick and easy method to identify ACH and similar hereditary gnomes at molecular level. Methods Specific blood transfusions of fibroblast growth factor receptor 3 (FGFR3) gene were amplified in 21 dry ACH patients and 6 suspected ACH patients by restriction endonuclease analysis , Single-strand conformation polymorphism and denaturing gradient gel electrophoresis to detect gene mutations. Results Of the 6 suspected ACH patients, 1 was ACH and 5 was pseudo-achondroplasia. Among 2 2 ACH patients, 21 cases of nucleotide G → A conversion of FGFR3 gene and 1138 cases of G → C transversion occurred in 21 cases. Conclusion The gene mutations in ACH patients in China are closely related to the mutations of nucleotide G → A and G → C at position 1138 of FGFR3 gene. The method is a quick and easy way to identify ACH and similar hereditary gnomes at the molecular level.