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Molecular diagnosis of autosomal dominant polycystic kidney disease.
Song, Xuewen; Haghighi, Amirreza; Iliuta, Ioan-Andrei; Pei, York.
Afiliação
  • Song X; a Division of Nephrology , University Health Network and University of Toronto , Toronto , ON , Canada.
  • Haghighi A; a Division of Nephrology , University Health Network and University of Toronto , Toronto , ON , Canada.
  • Iliuta IA; a Division of Nephrology , University Health Network and University of Toronto , Toronto , ON , Canada.
  • Pei Y; a Division of Nephrology , University Health Network and University of Toronto , Toronto , ON , Canada.
Expert Rev Mol Diagn ; 17(10): 885-895, 2017 10.
Article em En | MEDLINE | ID: mdl-28724316
INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease that accounts for 5-10% of end-stage renal disease in developed countries. Mutations in PKD1 and PKD2 account for a majority of cases. Mutation screening of PKD1 is technically challenging largely due to the complexity resulting from duplication of its first 33 exons in six highly homologous pseudogenes (i.e. PKD1P1-P6). Protocol using locus-specific long-range and nested PCR has enabled comprehensive PKD1 mutation screening but is labor-intensive and costly. Here, the authors review how recent advances in Next Generation Sequencing are poised to transform and extend molecular diagnosis of ADPKD. Areas covered: Key original research articles and reviews of the topic published in English identified through PubMed from 1957-2017. Expert commentary: The authors review current and evolving approaches using targeted resequencing or whole genome sequencing for screening typical as well as challenging cases (e.g. cases with no detectable PKD1 and PKD2 mutations which may be due to somatic mosaicism or other cystic disease; and complex genetics such as bilineal disease).
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Rim Policístico Autossômico Dominante / Estudos de Associação Genética Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Rim Policístico Autossômico Dominante / Estudos de Associação Genética Idioma: En Ano de publicação: 2017 Tipo de documento: Article