del Senno L, de Paoli Vitali E, Zamorani G, Piva R, Hanau S, Buzzoni D, Bernardi F, Storari A, Limone G L, Farinelli A
Centro Studi Biochimici delle patologie del genoma umano, University of Ferrara, Italy.
Nephrol Dial Transplant. 1988;3(6):752-5.
A highly polymorphic DNA probe (3'HVR) with genetic linkage to the locus of autosomal dominant polycystic kidney disease was used for screening. Families with subjects at risk were from the Po river delta region (Northern Italy), where the disease accounts for 24% of the demands for dialysis. 3'HVR alleles were investigated in white blood cell DNA from 142 members of 18 families. The genomic marker was found informative in 88% of cases. Two recombinations between the marker and the disease locus were observed in 79 meioses. In 42 of the subjects at risk the results of DNA analysis and renal ultrasonography were compared. In 36 subjects the tests confirmed each other (18 were positive). In the other six subjects (all under 20 years of age and four under 10) only DNA analysis could diagnose the inheritance of cystic disease in the absence of demonstrable cysts. The findings indicate that in the population of the Po river delta the presymptomatic detection of adult polycystic kidney disease by 3'HVR linkage analysis is feasible in 88% of cases with approximately 95% reliability.
使用一种与常染色体显性遗传性多囊肾病位点存在基因连锁的高度多态性DNA探针（3'HVR）进行筛查。有患病风险个体的家庭来自波河三角洲地区（意大利北部），在该地区，这种疾病占透析需求的24%。对18个家庭的142名成员白细胞DNA中的3'HVR等位基因进行了研究。发现该基因标记在88%的病例中具有信息价值。在79次减数分裂中观察到标记与疾病位点之间有两次重组。对42名有患病风险的个体的DNA分析结果与肾脏超声检查结果进行了比较。在36名个体中，两项检查结果相互印证（18名呈阳性）。在其他6名个体（均未满20岁，4名未满10岁）中，在没有可证实囊肿的情况下，只有DNA分析能够诊断出囊性疾病的遗传情况。研究结果表明，在波河三角洲人群中，通过3'HVR连锁分析对成人多囊肾病进行症状前检测在88%的病例中是可行的，可靠性约为95%。
