21
views
0
recommends
+1 Recommend
1 collections
    0
    shares

      Call for Papers: Green Renal Replacement Therapy: Caring for the Environment

      Submit here before July 31, 2024

      About Blood Purification: 3.0 Impact Factor I 5.6 CiteScore I 0.83 Scimago Journal & Country Rank (SJR)

      • Record: found
      • Abstract: found
      • Article: found

      Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese.

      Nephron. Experimental Nephrology
      Adult, Base Sequence, Case-Control Studies, China, ethnology, DNA Mutational Analysis, Female, Gene Amplification, Genetic Testing, Humans, Male, Middle Aged, Molecular Sequence Data, Polycystic Kidney, Autosomal Dominant, genetics, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Protein Conformation, Protein Kinases, Proteins, Reference Values, TRPP Cation Channels

      Read this article at

      ScienceOpenPublisherPubMed
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in two genes, PKD1 and PKD2. The complexity of these genes, particularly PKD1, has complicated genetic screening, though recent advances have provided new opportunities for amplifying these genes. In the Han Chinese population, no complete mutational analysis has previously been conducted across the entire span of PKD1 and PKD2. Here, we used single-strand conformation polymorphism (SSCP) analysis to screen the entire coding sequence of PKD1 and PKD2 in 85 healthy controls and 72 Han Chinese from 24 ADPKD pedigrees. In addition to 11 normal variants, we identified 17 mutations (12 in PKD1 and 5 in PKD2), 15 of which were novel ones (11 for PKD1 and 4 for PKD2). We did not identify any seeming mutational hot spots in PKD1 and PKD2. Notably, we found several disease-associated C-T or G-A mutations that led to charge or hydrophobicity changes in the corresponding amino acids. This suggests that the mutations cause conformational alterations in the PKD1 and PKD2 protein products that may impact the normal protein functions. Our study is the first report of screenable mutations in the full-length PKD1 and PKD2 genes of the Han Chinese, and also offers a benchmark for comparisons between Caucasian and Han ADPKD pedigrees and patients.

          Related collections

          Most cited references25

          • Record: found
          • Abstract: found
          • Article: not found

          PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.

          A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.
            Bookmark
            • Record: found
            • Abstract: not found
            • Article: not found

            Genetics and pathogenesis of polycystic kidney disease.

              Bookmark
              • Record: found
              • Abstract: not found
              • Article: not found

              The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16

                Bookmark

                Author and article information

                Comments

                Comment on this article