NDLI: Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

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Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Sneddon, V. Rossetti, S. Peral, B. Komel, R. Winearls, C. G. Burton, S. Gamble, V. Strmecki, L. Roy, S. Bakkaloglu, A. Harris, P. C.
Description	Country affiliation: United States Author Affiliation: Rossetti S ( Division of Nephrology, Mayo Clinic, Rochester, MN 55901, USA.)
Abstract	Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region. We have developed methods, employing long polymerase chain reaction (PCR) and specific reverse transcription-PCR, to amplify all of the PKD1 coding area. The gene was screened for mutations in 131 unrelated patients with ADPKD, using the protein-truncation test and direct sequencing. Mutations were identified in 57 families, and, including 24 previously characterized changes from this cohort, a detection rate of 52.3% was achieved in 155 families. Mutations were found in all areas of the gene, from exons 1 to 46, with no clear hotspot identified. There was no significant difference in mutation frequency between the single-copy and duplicated areas, but mutations were more than twice as frequent in the 3' half of the gene, compared with the 5' half. The majority of changes were predicted to truncate the protein through nonsense mutations (32%), insertions or deletions (29.6%), or splicing changes (6.2%), although the figures were biased by the methods employed, and, in sequenced areas, approximately 50% of all mutations were missense or in-frame. Studies elsewhere have suggested that gene conversion may be a significant cause of mutation at PKD1, but only 3 of 69 different mutations matched PKD1-like HG sequence. A relatively high rate of new PKD1 mutation was calculated, 1.8x10-5 mutations per generation, consistent with the many different mutations identified (69 in 81 pedigrees) and suggesting significant selection against mutant alleles. The mutation detection rate, in this study, of >50% is comparable to that achieved for other large multiexon genes and shows the feasibility of genetic diagnosis in this disorder.
ISSN	00029297
e-ISSN	15376605
Journal	The American Journal of Human Genetics
Issue Number	1
Volume Number	68
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	2001-01-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Genetic Testing Mutation Genetics Polycystic Kidney, Autosomal Dominant Diagnosis Proteins Alleles Amino Acid Sequence Cohort Studies Dna Mutational Analysis Dna Primers Dna Restriction Enzymes Metabolism Genetic Linkage Heteroduplex Analysis Pedigree Polymerase Chain Reaction Polymorphism, Genetic Protein Sorting Signals Sequence Analysis, Dna Sequence Deletion Trpp Cation Channels Research Support, Non-u.s. Gov't Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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