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目的研究太原市中心医院肾内科收集的7例多囊肾患者及其家属外周血PKD基因的突变情况。方法采用聚合酶链式反应(PCR)技术扩增PKD1和PKD2部分外显子,PCR产物直接测序,据测序图谱进行突变分析。结果 1例患者及其三个女儿PKD2的4号外显子35689位C(T)杂合突变,致使氨基酸由精氨酸突变为终止密码子,发生无义突变;7例患者及其家属均在PKD1的11、12号外显子出现杂合突变,其中27752位点位于12内含子14位,不会影响氨基酸的变化,目前还不确定是否为致病突变。11号外显子共计发现5个突变位点,其中26310、26547为同义突变,26411、26438、26495为错义突变。结论外周血PKD基因的突变检测可作为多囊肾病症前及产前筛查有效的分子生物学诊断技术。
Objective To study the mutation of PKD gene in 7 cases of polycystic kidney disease patients and their relatives collected from Department of Nephrology, Central Hospital of Taiyuan. Methods The exons of PKD1 and PKD2 were amplified by polymerase chain reaction (PCR). The PCR products were directly sequenced and the mutations were analyzed by sequencing. Results One patient and three daughters had heterozygous C (T) heterozygosity at exon 4 of PKD2, resulting in a nonsense mutation from arginine to stop codon. The seven patients and their relatives were There is a heterozygous mutation in exon 11 and 12 of PKD1, of which 27,752 loci are located in the 12th intron 14 and will not affect the amino acid changes. It is not yet certain whether this is a pathogenic mutation. A total of five mutations were found in exon 11, of which 26310 and 26547 were synonymous mutations and 26411, 26438 and 26495 were missense mutations. Conclusion The detection of PKD mutations in peripheral blood can be used as a molecular diagnostic technique for pre-and postnatal diagnosis of polycystic kidney disease.