【摘要】 目的验证1例常染色体显性遗传性多囊肾患者的致病基因并进行家系分析。方法收集患者及其女的外周血,采用Long-PCR和新一代高通量测序技术对常染色体显性多囊肾基因进行检测,并用Sanger测序进行验证。结果发现患者携带PKD1基因c.10396₁0397delTC（Ala3467Ilefs*3）杂合移码变异,该变异导致蛋白质截短表达并影响其功能,其女携带相同突变基因。结论PCR联合Sanger序列分析证实PDK1基因c.10396₁0397delTC（Ala3467Ilefs*3）变异为致病变异,该变异目前少有报道,丰富了PKD1的基因突变谱。更多还原

【Abstract】 Objective To define the gene mutations in a patient with autosomal dominant polycystic kidney（ADPK） and to analyze his family. Methods After sampling the peripheral blood of the patient and his daughter,the mutations of the ADPK gene were detected by Long-PCR with new generation of high-throughput sequencing technology. The results were verified by Sanger sequencing. Results The patient was found to carry the heterozygous frameshift variation of the PKD1 gene c.10396₁0397 delTC（Ala3467 Ilefs*3）,which may result in protein truncation and function change. The daughter was testified to have the same mutant gene. Conclusion PCR and Sanger sequence analysis confirmed that the PDK1 gene c.10396₁0397 delTC（Ala3467 Ilefs*3） mutated in patients. The new frameshift mutations enriches mutation spectrum of PKD1 gene,as it has not been reported yet.更多还原