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目的对一例临床诊断为软骨发育不全(ACH)的患者及其父母的成纤维细胞生长因子受体3(FGFR3)进行基因突变检测。方法提取患者及其家庭成员外周血DNA,对FGFR3基因的全部编码氨基酸外显子及相邻内含子区设计引物,进行PCR扩增,并对扩增产物进行测序。结果 FGFR3基因第10外显子发生了cDNA第1138位G到A的转换,使得其所编码蛋白FGR3的第380位氨基酸由甘氨酸变为精氨酸。结论 FGFR3基因的G1138A杂合突变为该患者发病的原因,进一步说明了该突变为热点突变。
Objective To investigate the gene mutation of a human fibroblast growth factor receptor 3 (FGFR3) in a patient with clinically diagnosed achondroplasia (ACH) and its parents. Methods DNA from peripheral blood of patients and their family members was extracted. Primers were designed for all the encoded amino acid exons and adjacent intron regions of FGFR3 gene. The primers were amplified by PCR and the amplified products were sequenced. Results The exon 10 of FGFR3 gene changed from G to A at position 1138 of cDNA so that the 380th amino acid of the encoded protein FGR3 changed from glycine to arginine. Conclusion G1138A heterozygous mutation of FGFR3 gene is the reason of the onset of the disease, which further indicates that the mutation is a hot spot mutation.