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成人型多囊肾病(adult polycystic kidney disease,APKD)是一种常染色体显性遗传病,临床并不罕见,欧美发病率为1/1000,占慢性肾功能衰竭的9％;我国尚无确切统计.近年来随着B型超声在医学领域中的广泛应用,该病的检出率有所提高.由于APKD症状出现较晚.临床确诊为该病时患者往往已将其致病基因遗传给下一代,因此症状前基因诊断及产前诊断是控制本病的有效措施.1985年Reeders等报道,成人型多囊肾病基因与位于16号染色体短臂上的α珠蛋白基因簇下游(3’端)8 kb处的一高变区(The 3’hypervariable region,3’HVR)具有紧密连锁关系,其重组率为5％;用3’HVR为探针对APKD家系基因组PvuⅡ片段进行RFLP(限制性片段长度多态性)连锁分析,可成功地用于产前诊断.本文首次报道国内5个APKD家系及正常人RFLP分析结果.
Adult polycystic kidney disease (APKD) is an autosomal dominant genetic disease, clinical is not uncommon, the incidence of Europe and the United States 1/1000, accounting for 9% of chronic renal failure; China has no exact statistics In recent years, with the wide application of B-mode ultrasound in the medical field, the detection rate of the disease has been increased due to the late appearance of APKD symptoms, and patients often have inherited their pathogenicity genes under clinical diagnosis Therefore, pre-symptomatic genetic diagnosis and prenatal diagnosis are effective measures to control this disease. In 1985, Reeders et al. Reported that the adult polycystic kidney disease gene is located downstream of the alpha globin gene cluster located on the short arm of chromosome 16 ) 3 kb of 3’HVR was closely linked at 8 kb, and its recombination rate was 5%. RFLP (restriction of PvuII fragment of APKD pedigree genome with 3’HVR probe Fragment length polymorphism) linkage analysis can be successfully used for prenatal diagnosis.This article first reported five domestic APKD pedigrees and normal RFLP analysis results.