Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots

Genomics

Volumn 91, Issue 2, 2008, Pages 203-208

  Kozlowski, Piotr ^a   Bissler, John ^b   Pei, York ^c   Kwiatkowski, David J ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c Division of Genomic Medicine   (Canada)

Author keywords

Autosomal dominant polycystic kidney disease; Intron 21; Large deletions; MLPA; Multiplex ligation dependent probe amplification; PKD1; Polypurine polypyrimidine tract; TSC2

Indexed keywords

POLYCYSTIN 1; TUBERIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; EXON; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE STRUCTURE; GENETIC PROCEDURES; HUMAN; HUMAN TISSUE; INTRON; KIDNEY POLYCYSTIC DISEASE; MULTIPLEX LIGATION DEPENDENT PROBE ASSAY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; TUBEROUS SCLEROSIS;

DNA MUTATIONAL ANALYSIS; HUMANS; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; TRPP CATION CHANNELS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 38349028666     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2007.10.003     Document Type: Article

References (22)

1. Dalgaard O.Z. Bilateral polycystic disease of the kidneys: a follow-up of two hundred and eighty-four patients and their families. Acta Med. Scand., Suppl. 328 (1957) 1-255
2. Fick G.M., and Gabow P.A. Hereditary and acquired cystic disease of the kidney. Kidney Int. 46 (1994) 951-964
3. Peters D.J., and Sandkuijl L.A. Genetic heterogeneity of polycystic kidney disease in Europe. Contrib. Nephrol. 97 (1992) 128-139
4. Harris P.C., et al. Polycystic kidney disease. 1. Identification and analysis of the primary defect. J. Am. Soc. Nephrol. 6 (1995) 1125-1133
5. The European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77 (1994) 881-894
6. Bogdanova N., et al. Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes. Genomics 74 (2001) 333-341
7. Rossetti S., et al. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am. J. Hum. Genet. 68 (2001) 46-63
8. Peltola P., et al. Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. J. Mol. Med. 83 (2005) 638-646
9. Blaszak R.T., et al. DNA structural transitions within the PKD1 gene. Nucleic Acids Res. 27 (1999) 2610-2617
10. Bacolla A., et al. Pkd1 unusual DNA conformations are recognized by nucleotide excision repair. J. Biol. Chem. 276 (2001) 18597-18604
11. Patel H.P., et al. PKD1 intron 21: triplex DNA formation and effect on replication. Nucleic Acids Res. 32 (2004) 1460-1468
12. Bissler J.J. Triplex DNA and human disease. Front. Biosci. 12 (2007) 4536-4546
13. Callen D.F., et al. Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a "hot spot" for recombination at 16p12. Genomics 29 (1995) 503-511
14. Harris P.C., et al. A large duplicated area in the polycystic kidney disease 1 (PKD1) region of chromosome 16 is prone to rearrangement. Genomics 23 (1994) 321-330
15. Ariyurek Y., et al. Large deletions in the polycystic kidney disease 1 (PKD1) gene. Hum. Mutat. 23 (2004) 99
16. Brook-Carter P.T., et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease-a contiguous gene syndrome. Nat. Genet. 8 (1994) 328-332
17. Sampson J.R., et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am. J. Hum. Genet. 61 (1997) 843-851
18. Kozlowski P., et al. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum. Genet. 121 (2007) 389-400
19. Qian F., et al. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell 87 (1996) 979-987
20. Brasier J.L., and Henske E.P. Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. J. Clin. Invest. 99 (1997) 194-199
21. Schouten J.P., et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30 (2002) e57
22. Corpet F. Multiple sequence alignment with hierarchical clustering. Nucleic Acids Res. 16 (1988) 10881-10890