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本文利用a-珠蛋白基因3HVR探针对一个存在儿童期发病的成人型囊肾病(adult polycystic kidney disease,APKD)家系进行研究,发现该家系中APKD的发生是由于AP-KD1基因突变所致。但是APKD1基因突变本身并不足以导致该病的早发。结果提示APKD在儿童期的早发可能是其它遗传因素或环境因素共同作用的结果,或是基因组印记对APKD突变基因表达的修饰作用所致。
In this study, we investigated the pedigree of adult polycystic kidney disease (APKD) with a-globin gene 3HVR probe and found that APKD was caused by AP-KD1 gene mutation in this pedigree. But the APKD1 mutation alone is not enough to cause the disease to go early. The results suggest that APKD early in childhood may be the result of other genetic factors or environmental factors together, or genomic imprinted APKD mutant gene expression due to the modification.