Roelfsema J H, Peters D J, Breuning M H
Department of Human Genetics, Sylvius Laboratory, Leiden University, The Netherlands.
Nephrol Dial Transplant. 1996;11 Suppl 6:5-9. doi: 10.1093/ndt/11.supp6.5.
Since the identification of the PKD1 gene in 1994, few mutations have been found. This is mainly due to the very strong homology between a large part of the PKD1 gene and another locus on the short arm of chromosome 16. It is expected that the majority of mutations at the PKD1 locus will be small deletions, insertions and point mutations. Amplification of a piece of DNA derived from the repeated area of the PKD1 gene will result in co-amplification of DNA fragments from the other locus. Detection of mutations is significantly hampered this way. We present a procedure, using the protein truncation test, which reduces the complexity caused by the homologous sequences. We have studied a group of 20 patients with ADPKD at the 3' end of the PKD1 transcript and have produced promising results.
自1994年发现PKD1基因以来，发现的突变很少。这主要是由于PKD1基因的很大一部分与16号染色体短臂上的另一个位点之间存在很强的同源性。预计PKD1位点的大多数突变将是小的缺失、插入和点突变。源自PKD1基因重复区域的一段DNA的扩增将导致来自另一位点的DNA片段的共扩增。这样就严重阻碍了突变的检测。我们提出了一种使用蛋白质截短试验的方法，该方法降低了由同源序列引起的复杂性。我们研究了一组20例常染色体显性多囊肾病患者PKD1转录本的3'端，并取得了有希望的结果。
