Novel mutations in the 3' region of the polycystic kidney disease 1 (PKD1) gene

Mutation screening in 90 unrelated ADPKD1 patients was carried out on some of the exons in the single copy area (37, 38, 39, 44, 45) using genomic PCR and SSCP. Four novel mutations were found: a 15 bp in-frame deletion in exon 39 [nt11449 (del 15)], a 2 bp deletion in exon 44 [nt12252 (del 2)], a G...

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Published inHuman genetics Vol. 105; no. 6; pp. 648 - 653
Main Authors Afzal, A.R., Hand, M., Ternes-Pereira, E., Saggar-Malik, A., Taylor, R., Jeffery, S.
Format Journal Article
LanguageEnglish
Published Heidelberg Springer 01.12.1999
Berlin
New York, NY
Subjects
Amino Acid Sequence
Base Sequence
Biological and medical sciences
DNA Mutational Analysis
Exons
Female
Humans
Kidneys
Male
Malformations of the urinary system
Medical sciences
Molecular Sequence Data
Nephrology. Urinary tract diseases
Pedigree
Polycystic Kidney, Autosomal Dominant - genetics
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Proteins - genetics
TRPP Cation Channels
Kidney disease
Case study
Human
Urinary system disease
Polycystic kidney
Cyst
Polycystin
Genetics
Benign neoplasm
Mutation
Genetic disease
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ISSN0340-6717
1432-1203
DOI10.1007/s004399900177

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Summary:Mutation screening in 90 unrelated ADPKD1 patients was carried out on some of the exons in the single copy area (37, 38, 39, 44, 45) using genomic PCR and SSCP. Four novel mutations were found: a 15 bp in-frame deletion in exon 39 [nt11449 (del 15)], a 2 bp deletion in exon 44 [nt12252 (del 2)], a G insertion in exon 44 [nt12290 (Ins G)], and a GTT in-frame deletion in exon 45 [nt12601 (del 3)].
Bibliography:ObjectType-Article-1
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ISSN:0340-6717
1432-1203
DOI:10.1007/s004399900177