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应用人１６号染色体上α－珠蛋白基因３’ＨＶＲ（Ｄ１６ｓ８５）为探针，对三个成人型多囊肾病（ＡＰＫＤ）家系进行限制性片段长度多态性（ＲＦＬＰ）连锁分析，结果三个家系均对α－珠蛋白基因３’ＨＶＲ提供信息，并对家系３中一成员成功地进行了症状前诊断，确定该成员（１０岁）携带致病基因的风险为５％。说明α－珠蛋白基因３’ＨＶＲ探针可用于中国人群中ＡＰＫＤ的症状前诊断和产前诊断，同时证明此法是目前成人型多囊肾病症状前诊断和产前诊断最有效的手段。
Using the 3’HVR (D16s85) gene on α-globin gene on chromosome 16 as a probe, restriction fragment length polymorphism (RFLP) linkage analysis was performed on three pedigrees of APKD pedigrees. The results showed that three The pedigrees provided information on the 3’HVR of the alpha-globin gene and successfully diagnosed a member of family 3 pre-symptoms and determined that the member (10 years) had a 5% risk of carrying the disease-causing genes. This indicates that the 3’HVR probe of α-globin gene can be used for the pre-diagnosis and prenatal diagnosis of APKD in Chinese population. At the same time, it is proved that this method is the most effective method for pre-symptom diagnosis and prenatal diagnosis of adult polycystic kidney disease.