摘要
目的 基因水平上澄清一个不符合常染色体显性遗传病遗传规律的软骨发育不全家系患者的致病机理。方法 用聚合酶链反应技术扩增家系成员外周血基因组 DNA成纤维细胞生长因子受体 3(fibroblast growth factor receptor 3 ,FGFR3 )基因第 10外显子 ,DNA序列分析寻找突变位点 ,然后经限制性内切酶 Mae 分析验证。结果 患者外周血基因组 DNA FGFR3基因第 10外显子第 1180位核苷酸发现一个 A→ T新突变 ,而家系正常成员包括先证者父母不存在此突变。结论 结合系谱分析 ,这一新突变可能是导致该家系患者软骨发育不全的原因。
Objective: To clarify the patients' pathogenic mechanism in an achondroplasia family not according with the genetic law of autosomal dominant inheritance disease at gene level. Methods: Genomic DNA from peripheral blood of all members in this family was used for amplification of the exon 10 of fibroblast growth factor receptor 3 (FGFR3) gene by PCR; mutation was detected by DNA sequencing and identified by restriction endonuclease Mae III. Results: A new mutation of A&rarrT at nucleotide 1180 was found in patients but not in unaffected members. Conclusion: Combined with pedigree analysis, it was summarized that achondroplasia patients in this family might result from this new mutation.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2003年第5期373-375,共3页
Chinese Journal of Medical Genetics
