Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE

European Journal of Human Genetics

Volumn 9, Issue 12, 2001, Pages 957-960

  Peters, Dorien J M ^a   Ariyurek, Yavuz ^a   van Dijk, Marjan ^a   Breuning, Martijn ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

ADPKD; DGGE; PKD1; Polycystic kidney disease

Indexed keywords

DNA; PRIMER DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA POLYMORPHISM; DNA TEMPLATE; EXON; FRAMESHIFT MUTATION; GENE LOCUS; GENETIC CODE; GENETIC TRANSCRIPTION; GENOME; HUMAN; INTRON; KIDNEY POLYCYSTIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING TEST; SEQUENCE ANALYSIS; SILENT GENE;

ADULT; AGED; ELECTROPHORESIS; EXONS; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEINS; TRPP CATION CHANNELS;

EID: 0035709341     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200756     Document Type: Article

References (13)

1. Genetic heterogeneity of polycystic kidney disease in Europe
2. Comparison of phenotypes of polycystic kidney disease types 1 and 2
3. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
4. Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications
5. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection
6. Identification of mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene by a novel approach
7. Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR
8. Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes
9. Mutation analysis of the entire replicated portion of pkd1 using genomic dna samples
10. DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients
11. Novel mutations in the duplicated region of PKD1 gene
12. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)
13. Recommendations for a nomenclature system for human gene mutations