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应用PKD1两侧探针（3HVR和24-1），采用Southern印迹杂交方法，通过RFLP连锁分析，对7个成人型多囊肾病家系共41个成员进行了基因单体型分析。16个APKD患者的RFLP单体型被证明与PKD1基因相连锁，发现2个重组体，并检测出6个症状前个体。结果证明，APKD家系成员的PKD1基因与3HVR之间存在着紧密连锁关系，进一步肯定了3’MVR探针同样可用于我国成人型多囊肾病患者的症状前基因诊断和产前基因诊断。
Gene haplotypes were analyzed in 41 pedigrees of 7 adults with polycystic kidney disease by RFLP linkage analysis using Southern blot hybridization and 3HVR probes on both sides of PKD1 (3HVR and 24-1). RFLP haplotypes in 16 APKD patients were shown to be linked to the PKD1 gene, two were found, and six pre-symptomatic individuals were detected. The results show that there is a close linkage between PKD1 gene and 3HVR in APKD pedigree. It further affirms that 3’MVR probe can also be used for pre-symptomatic gene diagnosis and prenatal diagnosis in adults with polycystic kidney disease in our country.