Abstract
The principle cause of one of the most prevalent genetic disorders, autosomal dominant polycystic kidney disease, involves mutations in the PKD1 gene. However, since its identification in 1994, only 27 mutations have been published. Detection of mutations has been complicated because the greater part of the gene lies within a genomic region that is reiterated several times at another locus on chromosome 16. Amplification of DNA fragments in the repeated part of the PKD1 gene will lead to coamplification of highly homologous fragments derived from this other locus. These additional fragments severely hamper point-mutation detection. None of the point mutations published to date are located in the repeated part of the PKD1 gene. However, we have reduced the problems posed by the strong homology, by using the protein-truncation test, and we have identified eight novel mutations, seven of which are located in the repeated part of the PKD1 gene.
| Original language | English |
|---|---|
| Pages (from-to) | 1044-1052 |
| Number of pages | 9 |
| Journal | American Journal of Human Genetics |
| Volume | 61 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - Nov 1997 |
| Externally published | Yes |
Bibliographical note
Funding Information:We are grateful to all patients and physicians for their contribution to this study. We also would like to thank Rob Plug and Cees Harteveld, for technical assistance on sequencing, and Rob van der Luijt, for technical assistance on the PTT. This work was supported by funding from Dutch Kidney Foundation grant 95.1511.