Kucerová M, Zdárský E, Gregor V, Merta M, Kapras J, Dolanská M
Institute for Postgraduate Medical and Pharmaceutical Education, Prague.
Czech Med. 1990;13(4):160-7.
Using nephrological, genealogical and molecular genetic methods, the authors examined 85 members of 19 families with autosomal dominant polycystic kidney disease. With the aid of probe 3'HVR, alpha-globin and restriction endonuclease Pvu II, the families were found 95% informative. The rate of diagnostic reliability was also 95%. The authors verified the homogeneity of the disease in the Czech population and the applicability of the probe and endonuclease for molecular gene diagnostics in the population.
作者运用肾脏病学、系谱学和分子遗传学方法,对19个常染色体显性多囊肾病家族的85名成员进行了研究。借助3'HVR探针、α-珠蛋白和限制性内切酶Pvu II,发现这些家族95%具有信息价值。诊断可靠性率也为95%。作者验证了该疾病在捷克人群中的同质性,以及该探针和内切酶在该人群分子基因诊断中的适用性。