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目的通过对成人多囊肾病家系的限制性片断长度多态性连锁分析，探讨该病出现症状前的诊断。方法以α珠蛋白基因３’端高度可变区（３’ＨＶＲ）为遗传标记进行Ｓｏｕｔｈｅｒｎ杂交。结果观察到超过１０种３’ＨＶＲ等位片段，对１名家系成员做出症状出现前诊断。结论３’ＨＶＲ能有效地应用于成人多囊肾病的连锁分析。
Objective To investigate the pre-symptomatic diagnosis of polycystic kidney disease in adults by linkage analysis of restriction fragment length polymorphism. Methods The Southern hybridization was performed using the 3 ’HVR region of α-globin gene as a genetic marker. Results More than 10 3’HVR alleles were observed and one family member was diagnosed before the onset of symptoms. Conclusions 3’HVR can be effectively used in linkage analysis of adult polycystic kidney disease.