PMID- 10200984
OWN - NLM
STAT- MEDLINE
DCOM- 19990714
LR  - 20091119
IS  - 0085-2538 (Print)
IS  - 0085-2538 (Linking)
VI  - 55
IP  - 4
DP  - 1999 Apr
TI  - Mutational analysis within the 3' region of the PKD1 gene.
PG  - 1225-33
AB  - BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is one of the
      most common genetic diseases in humans, affecting 1 out of 1000 individuals. At
      least three different genes are involved in this disease. The search for
      mutations in PKD1 is complicated because most of the transcript is encoded by a
      genomic region reiterated more proximally on chromosome 16, and no prevalent
      mutation has been reported. METHODS: We have screened DNA from exon 43 through
      exon 46 and intron 40 of the PKD1 sequence by single-stranded conformational
      polymorphism (SSCP) analysis in 175 ADPKD patients. RESULTS: We have found 25
      differences with respect to the reported PKD1 DNA sequence, seven of which are
      mutations (Q4041X, Q4124X, IVS44-1G-->C, IVS45-1G-->A, 12801del28, R4275W, and
      Q4224P). We found different phenotypical expressions of the same mutation in the 
      families studied. We have detected several common polymorphisms, and some of them
      cosegregate, suggesting a common origin of these alleles in PKD1. CONCLUSIONS:
      The detection of only seven mutations in 175 unrelated ADPKD patients for this
      region of the PKD1 analyzed suggests that mutations could be widespread
      throughout all of the gene and that a prevalent mutation is not expected to
      occur. The identified PKD1 missense mutations may help to refine critical regions
      of the protein. Until a quicker and more sensitive method for the detection of
      mutations becomes available, linkage studies will continue to be the basis for
      the molecular diagnosis of ADPKD families.
FAU - Badenas, C
AU  - Badenas C
AD  - Department of Genetics, Institut d'Investigacions Biomediques August Pi i Sunyer,
      University of Barcelona, Spain.
FAU - Torra, R
AU  - Torra R
FAU - San Millan, J L
AU  - San Millan JL
FAU - Lucero, L
AU  - Lucero L
FAU - Mila, M
AU  - Mila M
FAU - Estivill, X
AU  - Estivill X
FAU - Darnell, A
AU  - Darnell A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Kidney Int
JT  - Kidney international
JID - 0323470
RN  - 0 (Proteins)
RN  - 0 (TRPP Cation Channels)
RN  - 0 (polycystic kidney disease 1 protein)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Amino Acid Substitution/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation/genetics
MH  - Polycystic Kidney, Autosomal Dominant/*genetics
MH  - Polymorphism, Single-Stranded Conformational
MH  - Proteins/*genetics
MH  - TRPP Cation Channels
EDAT- 1999/04/14 00:00
MHDA- 1999/04/14 00:01
CRDT- 1999/04/14 00:00
PHST- 1999/04/14 00:00 [pubmed]
PHST- 1999/04/14 00:01 [medline]
PHST- 1999/04/14 00:00 [entrez]
AID - 10.1046/j.1523-1755.1999.00368.x [doi]
AID - S0085-2538(15)46073-9 [pii]
PST - ppublish
SO  - Kidney Int. 1999 Apr;55(4):1225-33. doi: 10.1046/j.1523-1755.1999.00368.x.