Mutation analysis of the polycystic kidney disease 1 (PKD1) gene

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134279

Peral, B; Ward, C J; Thomas, S ^[1]

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1. John Radcliffe Hospital, Oxford (United Kingdom); and others

The gene which is mutated in most cases of autosomal dominant polycystic kidney disease (ADPKD), PKD1, has recently been identified on chromosome 16. Three quarters of this gene lies in a region of genomic DNA that is duplicated elsewhere on chromosome 16. Consequently, the search for mutations has proved difficult and our efforts so far have concentrated on screening the single copy 3{prime} region of the gene. We have employed the methods of field inversion gel electrophoresis, conventional Southern blotting, RT-PCR and heteroduplex analysis. From the examination of DNA of approximately 300 PKD1 patients, two deletions have been identified. One is a 5.5 kb genomic deletion, which is transmitted with the disease and results in a 3 kb deletion of the PKD1 transcript. The other is a de novo genomic deletion of 2 kb which removes {approximately}500 bp of the transcript. In addition, analysis of lymphoblast RNA by RT-PCR from 50 patients has revealed one splicing mutation resulting in the removal of a 135 bp exon. Further analysis of the single copy region of this gene is underway and strategies to screen the duplicated area of the gene for mutations are being explored.

• OSTI ID: 134279
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DOMINANT MUTATIONS
ELECTROPHORESIS
EXONS
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 16
KIDNEYS
PATIENTS
POLYMERASE CHAIN REACTION
SCREENING
SPLICING
TRANSCRIPTION
UROGENITAL SYSTEM DISEASES